{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T02:54:18Z","timestamp":1790477658409,"version":"4.1.0"},"reference-count":288,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2013,8,10]],"date-time":"2013-08-10T00:00:00Z","timestamp":1376092800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cell. Mol. Life Sci."],"published-print":{"date-parts":[[2014,4]]},"DOI":"10.1007\/s00018-013-1430-1","type":"journal-article","created":{"date-parts":[[2013,8,9]],"date-time":"2013-08-09T02:28:39Z","timestamp":1376015319000},"page":"1327-1352","source":"Crossref","is-referenced-by-count":157,"title":["Of mice and men: molecular genetics of congenital heart disease"],"prefix":"10.1007","volume":"71","author":[{"given":"Troels Askh\u00f8j","family":"Andersen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karin de Linde Lind","family":"Troelsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lars Allan","family":"Larsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,8,10]]},"reference":[{"issue":"6","key":"1430_CR1","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/j.jpeds.2008.05.059","volume":"153","author":"MD Reller","year":"2008","unstructured":"Reller MD, Strickland MJ, Riehle-Colarusso T, Mahle WT, Correa A (2008) Prevalence of congenital heart defects in metropolitan Atlanta, 1998\u20132005. J Pediatr 153(6):807\u2013813","journal-title":"J Pediatr"},{"issue":"4","key":"1430_CR2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1007\/BF00794186","volume":"16","author":"JI Hoffman","year":"1995","unstructured":"Hoffman JI (1995) Incidence of congenital heart disease: II. Prenatal incidence. Pediatr Cardiol 16(4):155\u2013165","journal-title":"Pediatr Cardiol"},{"issue":"23","key":"1430_CR3","doi-asserted-by":"crossref","first-page":"e714","DOI":"10.1161\/CIRCULATIONAHA.108.190690","volume":"118","author":"CA Warnes","year":"2008","unstructured":"Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA, del Nido P, Fasules JW, Graham TP Jr, Hijazi ZM, Hunt SA, King ME, Landzberg MJ, Miner PD, Radford MJ, Walsh EP, Webb GD (2008) ACC\/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology\/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines on the management of adults with congenital heart disease). Circulation 118(23):e714\u2013e833","journal-title":"Circulation"},{"issue":"1","key":"1430_CR4","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.ppedcard.2012.05.004","volume":"34","author":"A Parrott","year":"2012","unstructured":"Parrott A, Ware SM (2012) The role of the geneticist and genetic counselor in an ACHD clinic. Prog Pediatr Cardiol 34(1):15\u201320","journal-title":"Prog Pediatr Cardiol"},{"key":"1430_CR5","doi-asserted-by":"crossref","unstructured":"Vandenberg LN, Levin M (2013) A unified model for left-right asymmetry? Comparison and synthesis of molecular models of embryonic laterality. Dev Biol 379(1):1\u201315","DOI":"10.1016\/j.ydbio.2013.03.021"},{"issue":"7039","key":"1430_CR6","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1038\/nature03494","volume":"435","author":"Y Tanaka","year":"2005","unstructured":"Tanaka Y, Okada Y, Hirokawa N (2005) FGF-induced vesicular release of Sonic hedgehog and retinoic acid in leftward nodal flow is critical for left-right determination. Nature 435(7039):172\u2013177","journal-title":"Nature"},{"issue":"1","key":"1430_CR7","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0092-8674(03)00511-7","volume":"114","author":"J McGrath","year":"2003","unstructured":"McGrath J, Somlo S, Makova S, Tian X, Brueckner M (2003) Two populations of node monocilia initiate left-right asymmetry in the mouse. Cell 114(1):61\u201373","journal-title":"Cell"},{"issue":"6893","key":"1430_CR8","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/nature00849","volume":"418","author":"S Nonaka","year":"2002","unstructured":"Nonaka S, Shiratori H, Saijoh Y, Hamada H (2002) Determination of left-right patterning of the mouse embryo by artificial nodal flow. Nature 418(6893):96\u201399","journal-title":"Nature"},{"issue":"6","key":"1430_CR9","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0092-8674(00)81705-5","volume":"95","author":"S Nonaka","year":"1998","unstructured":"Nonaka S, Tanaka Y, Okada Y, Takeda S, Harada A, Kanai Y, Kido M, Hirokawa N (1998) Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell 95(6):829\u2013837","journal-title":"Cell"},{"issue":"1","key":"1430_CR10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ydbio.2005.07.038","volume":"288","author":"AF Ramsdell","year":"2005","unstructured":"Ramsdell AF (2005) Left-right asymmetry and congenital cardiac defects: getting to the heart of the matter in vertebrate left-right axis determination. Dev Biol 288(1):1\u201320","journal-title":"Dev Biol"},{"issue":"3","key":"1430_CR11","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0092-8674(00)81473-7","volume":"94","author":"H Yoshioka","year":"1998","unstructured":"Yoshioka H, Meno C, Koshiba K, Sugihara M, Itoh H, Ishimaru Y, Inoue T, Ohuchi H, Semina EV, Murray JC, Hamada H, Noji S (1998) Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry. Cell 94(3):299\u2013305","journal-title":"Cell"},{"issue":"9","key":"1430_CR12","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1136\/hrt.2009.181685","volume":"96","author":"A Luca De","year":"2010","unstructured":"De Luca A, Sarkozy A, Consoli F, Ferese R, Guida V, Dentici ML, Mingarelli R, Bellacchio E, Tuo G, Limongelli G, Digilio MC, Marino B, Dallapiccola B (2010) Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart 96(9):673\u2013677","journal-title":"Heart"},{"issue":"5","key":"1430_CR13","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1093\/hmg\/ddn411","volume":"18","author":"B Mohapatra","year":"2009","unstructured":"Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM (2009) Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. Hum Mol Genet 18(5):861\u2013871","journal-title":"Hum Mol Genet"},{"issue":"3","key":"1430_CR14","doi-asserted-by":"crossref","first-page":"712","DOI":"10.1086\/302289","volume":"64","author":"K Kosaki","year":"1999","unstructured":"Kosaki K, Bassi MT, Kosaki R, Lewin M, Belmont J, Schauer G, Casey B (1999) Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development. Am J Hum Genet 64(3):712\u2013721","journal-title":"Am J Hum Genet"},{"issue":"1","key":"1430_CR15","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/(SICI)1096-8628(19990101)82:1<70::AID-AJMG14>3.0.CO;2-Y","volume":"82","author":"R Kosaki","year":"1999","unstructured":"Kosaki R, Gebbia M, Kosaki K, Lewin M, Bowers P, Towbin JA, Casey B (1999) Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet 82(1):70\u201376","journal-title":"Am J Med Genet"},{"issue":"5","key":"1430_CR16","doi-asserted-by":"crossref","first-page":"987","DOI":"10.1086\/522890","volume":"81","author":"JD Karkera","year":"2007","unstructured":"Karkera JD, Lee JS, Roessler E, Banerjee-Basu S, Ouspenskaia MV, Mez J, Goldmuntz E, Bowers P, Towbin J, Belmont JW, Baxevanis AD, Schier AF, Muenke M (2007) Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. Am J Hum Genet 81(5):987\u2013994","journal-title":"Am J Hum Genet"},{"issue":"3","key":"1430_CR17","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1086\/339079","volume":"70","author":"E Goldmuntz","year":"2002","unstructured":"Goldmuntz E, Bamford R, Karkera JD, dela Cruz J, Roessler E, Muenke M (2002) CFC1 mutations in patients with transposition of the great arteries and double-outlet right ventricle. Am J Hum Genet 70(3):776\u2013780","journal-title":"Am J Hum Genet"},{"issue":"6","key":"1430_CR18","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/humu.20262","volume":"26","author":"S Sperling","year":"2005","unstructured":"Sperling S, Grimm CH, Dunkel I, Mebus S, Sperling HP, Ebner A, Galli R, Lehrach H, Fusch C, Berger F, Hammer S (2005) Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. Hum Mutat 26(6):575\u2013582","journal-title":"Hum Mutat"},{"issue":"1","key":"1430_CR19","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1086\/380998","volume":"74","author":"SM Ware","year":"2004","unstructured":"Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW (2004) Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 74(1):93\u2013105","journal-title":"Am J Hum Genet"},{"issue":"12","key":"1430_CR20","doi-asserted-by":"crossref","first-page":"1564","DOI":"10.1161\/CIRCRESAHA.112.269795","volume":"110","author":"VM French","year":"2012","unstructured":"French VM, van de Laar IM, Wessels MW, Rohe C, Roos-Hesselink JW, Wang G, Frohn-Mulder IM, Severijnen LA, de Graaf BM, Schot R, Breedveld G, Mientjes E, van Tienhoven M, Jadot E, Jiang Z, Verkerk A, Swagemakers S, Venselaar H, Rahimi Z, Najmabadi H, Meijers-Heijboer H, de Graaff E, Helbing WA, Willemsen R, Devriendt K, Belmont JW, Oostra BA, Amack JD, Bertoli-Avella AM (2012) NPHP4 variants are associated with pleiotropic heart malformations. Circ Res 110(12):1564\u20131574","journal-title":"Circ Res"},{"issue":"4","key":"1430_CR21","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1038\/ng1217","volume":"34","author":"EA Otto","year":"2003","unstructured":"Otto EA, Schermer B, Obara T, O\u2019Toole JF, Hiller KS, Mueller AM, Ruf RG, Hoefele J, Beekmann F, Landau D, Foreman JW, Goodship JA, Strachan T, Kispert A, Wolf MT, Gagnadoux MF, Nivet H, Antignac C, Walz G, Drummond IA, Benzing T, Hildebrandt F (2003) Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 34(4):413\u2013420","journal-title":"Nat Genet"},{"issue":"11","key":"1430_CR22","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1038\/ki.2011.284","volume":"80","author":"M Chaki","year":"2011","unstructured":"Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F (2011) Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int 80(11):1239\u20131245","journal-title":"Kidney Int"},{"issue":"3","key":"1430_CR23","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1038\/ng1197-305","volume":"17","author":"M Gebbia","year":"1997","unstructured":"Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B (1997) X-linked situs abnormalities result from mutations in ZIC3. Nat Genet 17(3):305\u2013308","journal-title":"Nat Genet"},{"issue":"9","key":"1430_CR24","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1038\/sj.ejhg.5200526","volume":"8","author":"A Megarbane","year":"2000","unstructured":"Megarbane A, Salem N, Stephan E, Ashoush R, Lenoir D, Delague V, Kassab R, Loiselet J, Bouvagnet P (2000) X-linked transposition of the great arteries and incomplete penetrance among males with a nonsense mutation in ZIC3. Eur J Hum Genet 8(9):704\u2013708","journal-title":"Eur J Hum Genet"},{"issue":"9","key":"1430_CR25","doi-asserted-by":"crossref","first-page":"2293","DOI":"10.1242\/dev.129.9.2293","volume":"129","author":"SM Purandare","year":"2002","unstructured":"Purandare SM, Ware SM, Kwan KM, Gebbia M, Bassi MT, Deng JM, Vogel H, Behringer RR, Belmont JW, Casey B (2002) A complex syndrome of left-right axis, central nervous system and axial skeleton defects in Zic3 mutant mice. Development 129(9):2293\u20132302","journal-title":"Development"},{"issue":"6","key":"1430_CR26","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1002\/dvdy.20719","volume":"235","author":"SM Ware","year":"2006","unstructured":"Ware SM, Harutyunyan KG, Belmont JW (2006) Heart defects in X-linked heterotaxy: evidence for a genetic interaction of Zic3 with the nodal signaling pathway. Dev Dyn 235(6):1631\u20131637","journal-title":"Dev Dyn"},{"issue":"10","key":"1430_CR27","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1093\/hmg\/ddt001","volume":"22","author":"MJ Sutherland","year":"2013","unstructured":"Sutherland MJ, Wang S, Quinn ME, Haaning A, Ware SM (2013) Zic3 is required in the migrating primitive streak for node morphogenesis and left-right patterning. Hum Mol Genet 22(10):1913\u20131923","journal-title":"Hum Mol Genet"},{"issue":"1","key":"1430_CR28","doi-asserted-by":"crossref","first-page":"e1003109","DOI":"10.1371\/journal.pgen.1003109","volume":"9","author":"KF Lenhart","year":"2013","unstructured":"Lenhart KF, Holtzman NG, Williams JR, Burdine RD (2013) Integration of nodal and BMP signals in the heart requires FoxH1 to create left-right differences in cell migration rates that direct cardiac asymmetry. PLoS Genet 9(1):e1003109","journal-title":"PLoS Genet"},{"issue":"1","key":"1430_CR29","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1016\/j.ajhg.2008.05.012","volume":"83","author":"E Roessler","year":"2008","unstructured":"Roessler E, Ouspenskaia MV, Karkera JD, Velez JI, Kantipong A, Lacbawan F, Bowers P, Belmont JW, Towbin JA, Goldmuntz E, Feldman B, Muenke M (2008) Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly. Am J Hum Genet 83(1):18\u201329","journal-title":"Am J Hum Genet"},{"issue":"3","key":"1430_CR30","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1016\/j.devcel.2004.07.023","volume":"7","author":"I Both von","year":"2004","unstructured":"von Both I, Silvestri C, Erdemir T, Lickert H, Walls JR, Henkelman RM, Rossant J, Harvey RP, Attisano L, Wrana JL (2004) Foxh1 is essential for development of the anterior heart field. Dev Cell 7(3):331\u2013345","journal-title":"Dev Cell"},{"issue":"6","key":"1430_CR31","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1093\/hmg\/ddq554","volume":"20","author":"FK Lopes","year":"2011","unstructured":"Lopes FK, Artap ST, Preis JI, Fatkin D, Chapman G, Furtado MB, Harvey RP, Hamada H, Sparrow DB, Dunwoodie SL (2011) Loss of Cited2 causes congenital heart disease by perturbing left-right patterning of the body axis. Hum Mol Genet 20(6):1097\u20131110","journal-title":"Hum Mol Genet"},{"issue":"6","key":"1430_CR32","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1242\/dev.01696","volume":"132","author":"WJ Weninger","year":"2005","unstructured":"Weninger WJ, Lopes FK, Bennett MB, Withington SL, Preis JI, Barbera JP, Mohun TJ, Dunwoodie SL (2005) Cited2 is required both for heart morphogenesis and establishment of the left-right axis in mouse development. Development 132(6):1337\u20131348","journal-title":"Development"},{"issue":"11","key":"1430_CR33","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1038\/ng1446","volume":"36","author":"SD Bamforth","year":"2004","unstructured":"Bamforth SD, Braganca J, Farthing CR, Schneider JE, Broadbent C, Michell AC, Clarke K, Neubauer S, Norris D, Brown NA, Anderson RH, Bhattacharya S (2004) Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway. Nat Genet 36(11):1189\u20131196","journal-title":"Nat Genet"},{"key":"1430_CR34","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/msb.2010.36","volume":"6","author":"K Lage","year":"2010","unstructured":"Lage K, Mollgard K, Greenway S, Wakimoto H, Gorham JM, Workman CT, Bendsen E, Hansen NT, Rigina O, Roque FS, Wiese C, Christoffels VM, Roberts AE, Smoot LB, Pu WT, Donahoe PK, Tommerup N, Brunak S, Seidman CE, Seidman JG, Larsen LA (2010) Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol 6:381","journal-title":"Mol Syst Biol"},{"key":"1430_CR35","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1146\/annurev.physiol.63.1.451","volume":"63","author":"D Srivastava","year":"2001","unstructured":"Srivastava D (2001) Genetic assembly of the heart: implications for congenital heart disease. Annu Rev Physiol 63:451\u2013469","journal-title":"Annu Rev Physiol"},{"issue":"2","key":"1430_CR36","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.devcel.2012.01.014","volume":"22","author":"JL Pompa de la","year":"2012","unstructured":"de la Pompa JL, Epstein JA (2012) Coordinating tissue interactions: Notch signaling in cardiac development and disease. Dev Cell 22(2):244\u2013254","journal-title":"Dev Cell"},{"issue":"3","key":"1430_CR37","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1038\/ng0797-243","volume":"16","author":"L Li","year":"1997","unstructured":"Li L, Krantz ID, Deng Y, Genin A, Banta AB, Collins CC, Qi M, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont ME, Rand EB, Piccoli DA, Hood L, Spinner NB (1997) Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 16(3):243\u2013251","journal-title":"Nat Genet"},{"issue":"3","key":"1430_CR38","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/ng0797-235","volume":"16","author":"T Oda","year":"1997","unstructured":"Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, Piccoli DA, Meltzer PS, Spinner NB, Collins FS, Chandrasekharappa SC (1997) Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 16(3):235\u2013242","journal-title":"Nat Genet"},{"issue":"3","key":"1430_CR39","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1002\/hep.510290331","volume":"29","author":"KM Emerick","year":"1999","unstructured":"Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA (1999) Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 29(3):822\u2013829","journal-title":"Hepatology"},{"issue":"20","key":"1430_CR40","doi-asserted-by":"crossref","first-page":"2567","DOI":"10.1161\/01.CIR.0000037221.45902.69","volume":"106","author":"DB McElhinney","year":"2002","unstructured":"McElhinney DB, Krantz ID, Bason L, Piccoli DA, Emerick KM, Spinner NB, Goldmuntz E (2002) Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and\/or Alagille syndrome. Circulation 106(20):2567\u20132574","journal-title":"Circulation"},{"issue":"2","key":"1430_CR41","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1136\/jmedgenet-2011-100544","volume":"49","author":"BM Kamath","year":"2012","unstructured":"Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, Hardikar W, Hirschfield G, Jara P, Krantz ID, Lapunzina P, Leonard L, Ling S, Ng VL, Hoang PL, Piccoli DA, Spinner NB (2012) NOTCH2 mutations in Alagille syndrome. J Med Genet 49(2):138\u2013144","journal-title":"J Med Genet"},{"issue":"1","key":"1430_CR42","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1086\/505332","volume":"79","author":"R McDaniell","year":"2006","unstructured":"McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, Krantz ID, Piccoli DA, Spinner NB (2006) NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 79(1):169\u2013173","journal-title":"Am J Hum Genet"},{"issue":"5","key":"1430_CR43","doi-asserted-by":"crossref","first-page":"723","DOI":"10.1093\/hmg\/8.5.723","volume":"8","author":"Y Xue","year":"1999","unstructured":"Xue Y, Gao X, Lindsell CE, Norton CR, Chang B, Hicks C, Gendron-Maguire M, Rand EB, Weinmaster G, Gridley T (1999) Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum Mol Genet 8(5):723\u2013730","journal-title":"Hum Mol Genet"},{"issue":"4","key":"1430_CR44","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1242\/dev.129.4.1075","volume":"129","author":"B McCright","year":"2002","unstructured":"McCright B, Lozier J, Gridley T (2002) A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency. Development 129(4):1075\u20131082","journal-title":"Development"},{"issue":"2","key":"1430_CR45","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1016\/j.jtcvs.2007.02.041","volume":"134","author":"SH McKellar","year":"2007","unstructured":"McKellar SH, Tester DJ, Yagubyan M, Majumdar R, Ackerman MJ, Sundt TM III (2007) Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg 134(2):290\u2013296","journal-title":"J Thorac Cardiovasc Surg"},{"issue":"18","key":"1430_CR46","doi-asserted-by":"crossref","first-page":"2886","DOI":"10.1093\/hmg\/ddn187","volume":"17","author":"KL McBride","year":"2008","unstructured":"McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, Cole SE (2008) NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet 17(18):2886\u20132893","journal-title":"Hum Mol Genet"},{"issue":"7056","key":"1430_CR47","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1038\/nature03940","volume":"437","author":"V Garg","year":"2005","unstructured":"Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D (2005) Mutations in NOTCH1 cause aortic valve disease. Nature 437(7056):270\u2013274","journal-title":"Nature"},{"issue":"1","key":"1430_CR48","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1101\/gad.276304","volume":"18","author":"LA Timmerman","year":"2004","unstructured":"Timmerman LA, Grego-Bessa J, Raya A, Bertran E, Perez-Pomares JM, Diez J, Aranda S, Palomo S, McCormick F, Izpisua-Belmonte JC, de la Pompa JL (2004) Notch promotes epithelial-mesenchymal transition during cardiac development and oncogenic transformation. Genes Dev 18(1):99\u2013115","journal-title":"Genes Dev"},{"issue":"4","key":"1430_CR49","doi-asserted-by":"crossref","first-page":"e60244","DOI":"10.1371\/journal.pone.0060244","volume":"8","author":"Y Wang","year":"2013","unstructured":"Wang Y, Wu B, Chamberlain AA, Lui W, Koirala P, Susztak K, Klein D, Taylor V, Zhou B (2013) Endocardial to myocardial notch-wnt-bmp axis regulates early heart valve development. PLoS ONE 8(4):e60244","journal-title":"PLoS ONE"},{"issue":"10","key":"1430_CR50","doi-asserted-by":"crossref","first-page":"3493","DOI":"10.1172\/JCI42666","volume":"120","author":"L Luna-Zurita","year":"2010","unstructured":"Luna-Zurita L, Prados B, Grego-Bessa J, Luxan G, del Monte G, Benguria A, Adams RH, Perez-Pomares JM, de la Pompa JL (2010) Integration of a Notch-dependent mesenchymal gene program and Bmp2-driven cell invasiveness regulates murine cardiac valve formation. J Clin Invest 120(10):3493\u20133507","journal-title":"J Clin Invest"},{"key":"1430_CR51","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1016\/j.yjmcc.2013.04.001","volume":"60","author":"K Bosse","year":"2013","unstructured":"Bosse K, Hans CP, Zhao N, Koenig SN, Huang N, Guggilam A, Lahaye S, Tao G, Lucchesi PA, Lincoln J, Lilly B, Garg V (2013) Endothelial nitric oxide signaling regulates Notch1 in aortic valve disease. J Mol Cell Cardiol 60:27\u201335","journal-title":"J Mol Cell Cardiol"},{"issue":"3","key":"1430_CR52","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.gde.2009.04.001","volume":"19","author":"WE Tidyman","year":"2009","unstructured":"Tidyman WE, Rauen KA (2009) The RASopathies: developmental syndromes of Ras\/MAPK pathway dysregulation. Curr Opin Genet Dev 19(3):230\u2013236","journal-title":"Curr Opin Genet Dev"},{"issue":"6","key":"1430_CR53","doi-asserted-by":"crossref","first-page":"e1325","DOI":"10.1542\/peds.2006-0211","volume":"119","author":"Y Sznajer","year":"2007","unstructured":"Sznajer Y, Keren B, Baumann C, Pereira S, Alberti C, Elion J, Cave H, Verloes A (2007) The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. Pediatrics 119(6):e1325\u2013e1331","journal-title":"Pediatrics"},{"issue":"6","key":"1430_CR54","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/S0022-3476(99)70088-0","volume":"135","author":"B Marino","year":"1999","unstructured":"Marino B, Digilio MC, Toscano A, Giannotti A, Dallapiccola B (1999) Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr 135(6):703\u2013706","journal-title":"J Pediatr"},{"issue":"4","key":"1430_CR55","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1038\/ng772","volume":"29","author":"M Tartaglia","year":"2001","unstructured":"Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29(4):465\u2013468","journal-title":"Nat Genet"},{"issue":"3","key":"1430_CR56","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1038\/ng1749","volume":"38","author":"T Niihori","year":"2006","unstructured":"Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y (2006) Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. Nat Genet 38(3):294\u2013296","journal-title":"Nat Genet"},{"issue":"3","key":"1430_CR57","doi-asserted-by":"crossref","first-page":"331","DOI":"10.1038\/ng1748","volume":"38","author":"S Schubbert","year":"2006","unstructured":"Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP (2006) Germline KRAS mutations cause Noonan syndrome. Nat Genet 38(3):331\u2013336","journal-title":"Nat Genet"},{"issue":"1","key":"1430_CR58","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1038\/ng1939","volume":"39","author":"M Tartaglia","year":"2007","unstructured":"Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JP, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD (2007) Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nat Genet 39(1):75\u201379","journal-title":"Nat Genet"},{"issue":"1","key":"1430_CR59","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1038\/ng1926","volume":"39","author":"AE Roberts","year":"2007","unstructured":"Roberts AE, Araki T, Swanson KD, Montgomery KT, Schiripo TA, Joshi VA, Li L, Yassin Y, Tamburino AM, Neel BG, Kucherlapati RS (2007) Germline gain-of-function mutations in SOS1 cause Noonan syndrome. Nat Genet 39(1):70\u201374","journal-title":"Nat Genet"},{"issue":"8","key":"1430_CR60","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1038\/ng2078","volume":"39","author":"MA Razzaque","year":"2007","unstructured":"Razzaque MA, Nishizawa T, Komoike Y, Yagi H, Furutani M, Amo R, Kamisago M, Momma K, Katayama H, Nakagawa M, Fujiwara Y, Matsushima M, Mizuno K, Tokuyama M, Hirota H, Muneuchi J, Higashinakagawa T, Matsuoka R (2007) Germline gain-of-function mutations in RAF1 cause Noonan syndrome. Nat Genet 39(8):1013\u20131017","journal-title":"Nat Genet"},{"issue":"8","key":"1430_CR61","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1038\/ng2073","volume":"39","author":"B Pandit","year":"2007","unstructured":"Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, Lopez Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD (2007) Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet 39(8):1007\u20131012","journal-title":"Nat Genet"},{"issue":"1","key":"1430_CR62","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1038\/ng.497","volume":"42","author":"IC Cirstea","year":"2010","unstructured":"Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, Konig R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M (2010) A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 42(1):27\u201329","journal-title":"Nat Genet"},{"issue":"10","key":"1430_CR63","doi-asserted-by":"crossref","first-page":"1038","DOI":"10.1038\/ng1641","volume":"37","author":"Y Aoki","year":"2005","unstructured":"Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y (2005) Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 37(10):1038\u20131040","journal-title":"Nat Genet"},{"issue":"5765","key":"1430_CR64","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1126\/science.1124642","volume":"311","author":"P Rodriguez-Viciana","year":"2006","unstructured":"Rodriguez-Viciana P, Tetsu O, Tidyman WE, Estep AL, Conger BA, Cruz MS, McCormick F, Rauen KA (2006) Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science 311(5765):1287\u20131290","journal-title":"Science"},{"issue":"9","key":"1430_CR65","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1038\/ng.425","volume":"41","author":"V Cordeddu","year":"2009","unstructured":"Cordeddu V, Di SE, Pennacchio LA, Ma\u2019ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M (2009) Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair. Nat Genet 41(9):1022\u20131026","journal-title":"Nat Genet"},{"issue":"2","key":"1430_CR66","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1016\/j.ajhg.2010.06.015","volume":"87","author":"S Martinelli","year":"2010","unstructured":"Martinelli S, de Luca A, Stellacci E, Rossi C, Checquolo S, Lepri F, Caputo V, Silvano M, Buscherini F, Consoli F, Ferrara G, Digilio MC, Cavaliere ML, van Hagen JM, Zampino G, van der Burgt I, Ferrero GB, Mazzanti L, Screpanti I, Yntema HG, Nillesen WM, Savarirayan R, Zenker M, Dallapiccola B, Gelb BD, Tartaglia M (2010) Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Am J Hum Genet 87(2):250\u2013257","journal-title":"Am J Hum Genet"},{"issue":"6","key":"1430_CR67","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1086\/498454","volume":"77","author":"A Luca De","year":"2005","unstructured":"De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B (2005) NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet 77(6):1092\u20131101","journal-title":"Am J Hum Genet"},{"key":"1430_CR68","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/B978-0-12-387786-4.00008-7","volume":"100","author":"DJ McCulley","year":"2012","unstructured":"McCulley DJ, Black BL (2012) Transcription factor pathways and congenital heart disease. Curr Top Dev Biol 100:253\u2013277","journal-title":"Curr Top Dev Biol"},{"issue":"5373","key":"1430_CR69","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1126\/science.281.5373.108","volume":"281","author":"JJ Schott","year":"1998","unstructured":"Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE, Seidman JG (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281(5373):108\u2013111","journal-title":"Science"},{"issue":"11","key":"1430_CR70","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1172\/JCI8154","volume":"104","author":"DW Benson","year":"1999","unstructured":"Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman CE, Plowden J, Kugler JD (1999) Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 104(11):1567\u20131573","journal-title":"J Clin Invest"},{"issue":"21","key":"1430_CR71","doi-asserted-by":"crossref","first-page":"2565","DOI":"10.1161\/hc4601.098427","volume":"104","author":"E Goldmuntz","year":"2001","unstructured":"Goldmuntz E, Geiger E, Benson DW (2001) NKX2.5 mutations in patients with tetralogy of Fallot. Circulation 104(21):2565\u20132568","journal-title":"Circulation"},{"issue":"7B","key":"1430_CR72","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1101\/gad.7.7b.1325","volume":"7","author":"N Azpiazu","year":"1993","unstructured":"Azpiazu N, Frasch M (1993) Tinman and bagpipe: two homeo box genes that determine cell fates in the dorsal mesoderm of Drosophila. Genes Dev 7(7B):1325\u20131340","journal-title":"Genes Dev"},{"issue":"6","key":"1430_CR73","doi-asserted-by":"crossref","first-page":"1269","DOI":"10.1242\/dev.126.6.1269","volume":"126","author":"M Tanaka","year":"1999","unstructured":"Tanaka M, Chen Z, Bartunkova S, Yamasaki N, Izumo S (1999) The cardiac homeobox gene Csx\/Nkx2.5 lies genetically upstream of multiple genes essential for heart development. Development 126(6):1269\u20131280","journal-title":"Development"},{"issue":"13","key":"1430_CR74","doi-asserted-by":"crossref","first-page":"1654","DOI":"10.1101\/gad.9.13.1654","volume":"9","author":"I Lyons","year":"1995","unstructured":"Lyons I, Parsons LM, Hartley L, Li R, Andrews JE, Robb L, Harvey RP (1995) Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeo box gene Nk2\u20135. Genes Dev 9(13):1654\u20131666","journal-title":"Genes Dev"},{"issue":"8","key":"1430_CR75","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1172\/JCI19846","volume":"113","author":"PY Jay","year":"2004","unstructured":"Jay PY, Harris BS, Maguire CT, Buerger A, Wakimoto H, Tanaka M, Kupershmidt S, Roden DM, Schultheiss TM, O\u2019Brien TX, Gourdie RG, Berul CI, Izumo S (2004) Nk2\u20135 mutation causes anatomic hypoplasia of the cardiac conduction system. J Clin Invest 113(8):1130\u20131137","journal-title":"J Clin Invest"},{"issue":"3","key":"1430_CR76","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/S0092-8674(04)00405-2","volume":"117","author":"M Pashmforoush","year":"2004","unstructured":"Pashmforoush M, Lu JT, Chen H, Amand TS, Kondo R, Pradervand S, Evans SM, Clark B, Feramisco JR, Giles W, Ho SY, Benson DW, Silberbach M, Shou W, Chien KR (2004) Nk2\u20135 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell 117(3):373\u2013386","journal-title":"Cell"},{"issue":"1","key":"1430_CR77","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.diff.2012.03.003","volume":"84","author":"S Zaffran","year":"2012","unstructured":"Zaffran S, Kelly RG (2012) New developments in the second heart field. Differentiation 84(1):17\u201324","journal-title":"Differentiation"},{"issue":"22","key":"1430_CR78","doi-asserted-by":"crossref","first-page":"4461","DOI":"10.1242\/dev.125.22.4461","volume":"125","author":"RD Searcy","year":"1998","unstructured":"Searcy RD, Vincent EB, Liberatore CM, Yutzey KE (1998) A GATA-dependent nkx-2.5 regulatory element activates early cardiac gene expression in transgenic mice. Development 125(22):4461\u20134470","journal-title":"Development"},{"issue":"2","key":"1430_CR79","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1006\/dbio.2002.0603","volume":"244","author":"CL Lien","year":"2002","unstructured":"Lien CL, McAnally J, Richardson JA, Olson EN (2002) Cardiac-specific activity of an Nk2\u20135 enhancer requires an evolutionarily conserved Smad binding site. Dev Biol 244(2):257\u2013266","journal-title":"Dev Biol"},{"issue":"1","key":"1430_CR80","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1242\/dev.126.1.75","volume":"126","author":"CL Lien","year":"1999","unstructured":"Lien CL, Wu C, Mercer B, Webb R, Richardson JA, Olson EN (1999) Control of early cardiac-specific transcription of Nk2\u20135 by a GATA-dependent enhancer. Development 126(1):75\u201384","journal-title":"Development"},{"issue":"2","key":"1430_CR81","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1006\/dbio.2002.0604","volume":"244","author":"CM Liberatore","year":"2002","unstructured":"Liberatore CM, Searcy-Schrick RD, Vincent EB, Yutzey KE (2002) Nkx-2.5 gene induction in mice is mediated by a Smad consensus regulatory region. Dev Biol 244(2):243\u2013256","journal-title":"Dev Biol"},{"issue":"5","key":"1430_CR82","doi-asserted-by":"crossref","first-page":"947","DOI":"10.1016\/j.cell.2007.01.042","volume":"128","author":"OW Prall","year":"2007","unstructured":"Prall OW, Menon MK, Solloway MJ, Watanabe Y, Zaffran S, Bajolle F, Biben C, McBride JJ, Robertson BR, Chaulet H, Stennard FA, Wise N, Schaft D, Wolstein O, Furtado MB, Shiratori H, Chien KR, Hamada H, Black BL, Saga Y, Robertson EJ, Buckingham ME, Harvey RP (2007) An Nk2\u20135\/Bmp2\/Smad1 negative feedback loop controls heart progenitor specification and proliferation. Cell 128(5):947\u2013959","journal-title":"Cell"},{"issue":"7","key":"1430_CR83","doi-asserted-by":"crossref","first-page":"2024","DOI":"10.1002\/dvdy.22341","volume":"239","author":"JL Barth","year":"2010","unstructured":"Barth JL, Clark CD, Fresco VM, Knoll EP, Lee B, Argraves WS, Lee KH (2010) Jarid2 is among a set of genes differentially regulated by Nkx2.5 during outflow tract morphogenesis. Dev Dyn 239(7):2024\u20132033","journal-title":"Dev Dyn"},{"issue":"18","key":"1430_CR84","doi-asserted-by":"crossref","first-page":"5687","DOI":"10.1093\/emboj\/16.18.5687","volume":"16","author":"D Durocher","year":"1997","unstructured":"Durocher D, Charron F, Warren R, Schwartz RJ, Nemer M (1997) The cardiac transcription factors Nk2\u20135 and GATA-4 are mutual cofactors. EMBO J 16(18):5687\u20135696","journal-title":"EMBO J"},{"issue":"2","key":"1430_CR85","doi-asserted-by":"crossref","first-page":"e1001313","DOI":"10.1371\/journal.pgen.1001313","volume":"7","author":"J Schlesinger","year":"2011","unstructured":"Schlesinger J, Schueler M, Grunert M, Fischer JJ, Zhang Q, Krueger T, Lange M, Tonjes M, Dunkel I, Sperling SR (2011) The cardiac transcription network modulated by Gata4, Mef2a, Nkx2.5, Srf, histone modifications, and microRNAs. PLoS Genet 7(2):e1001313","journal-title":"PLoS Genet"},{"issue":"3","key":"1430_CR86","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1038\/90123","volume":"28","author":"Y Hiroi","year":"2001","unstructured":"Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, Komuro I (2001) Tbx5 associates with Nk2\u20135 and synergistically promotes cardiomyocyte differentiation. Nat Genet 28(3):276\u2013280","journal-title":"Nat Genet"},{"issue":"7","key":"1430_CR87","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1016\/j.cell.2007.04.036","volume":"129","author":"IP Moskowitz","year":"2007","unstructured":"Moskowitz IP, Kim JB, Moore ML, Wolf CM, Peterson MA, Shendure J, Nobrega MA, Yokota Y, Berul C, Izumo S, Seidman JG, Seidman CE (2007) A molecular pathway including Id2, Tbx5, and Nk2\u20135 required for cardiac conduction system development. Cell 129(7):1365\u20131376","journal-title":"Cell"},{"key":"1430_CR88","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/B978-0-12-387786-4.00005-1","volume":"100","author":"P Zhou","year":"2012","unstructured":"Zhou P, He A, Pu WT (2012) Regulation of GATA4 transcriptional activity in cardiovascular development and disease. Curr Top Dev Biol 100:143\u2013169","journal-title":"Curr Top Dev Biol"},{"issue":"6947","key":"1430_CR89","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/nature01827","volume":"424","author":"V Garg","year":"2003","unstructured":"Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D (2003) GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424(6947):443\u2013447","journal-title":"Nature"},{"issue":"6","key":"1430_CR90","doi-asserted-by":"crossref","first-page":"677","DOI":"10.1016\/j.yjmcc.2007.06.004","volume":"43","author":"SK Rajagopal","year":"2007","unstructured":"Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, Goldmuntz E, Broman KW, Benson DW, Smoot LB, Pu WT (2007) Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol 43(6):677\u2013685","journal-title":"J Mol Cell Cardiol"},{"issue":"12","key":"1430_CR91","doi-asserted-by":"crossref","first-page":"779","DOI":"10.1136\/jmg.2007.052183","volume":"44","author":"A Tomita-Mitchell","year":"2007","unstructured":"Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E (2007) GATA4 sequence variants in patients with congenital heart disease. J Med Genet 44(12):779\u2013783","journal-title":"J Med Genet"},{"issue":"10","key":"1430_CR92","doi-asserted-by":"crossref","first-page":"4006","DOI":"10.1073\/pnas.1019025108","volume":"108","author":"IP Moskowitz","year":"2011","unstructured":"Moskowitz IP, Wang J, Peterson MA, Pu WT, Mackinnon AC, Oxburgh L, Chu GC, Sarkar M, Berul C, Smoot L, Robertson EJ, Schwartz R, Seidman JG, Seidman CE (2011) Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development (corrected). Proc Natl Acad Sci USA 108(10):4006\u20134011","journal-title":"Proc Natl Acad Sci USA"},{"issue":"8","key":"1430_CR93","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1101\/gad.11.8.1048","volume":"11","author":"CT Kuo","year":"1997","unstructured":"Kuo CT, Morrisey EE, Anandappa R, Sigrist K, Lu MM, Parmacek MS, Soudais C, Leiden JM (1997) GATA4 transcription factor is required for ventral morphogenesis and heart tube formation. Genes Dev 11(8):1048\u20131060","journal-title":"Genes Dev"},{"issue":"8","key":"1430_CR94","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1101\/gad.11.8.1061","volume":"11","author":"JD Molkentin","year":"1997","unstructured":"Molkentin JD, Lin Q, Duncan SA, Olson EN (1997) Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 11(8):1061\u20131072","journal-title":"Genes Dev"},{"issue":"1","key":"1430_CR95","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.ydbio.2004.08.008","volume":"275","author":"WT Pu","year":"2004","unstructured":"Pu WT, Ishiwata T, Juraszek AL, Ma Q, Izumo S (2004) GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev Biol 275(1):235\u2013244","journal-title":"Dev Biol"},{"issue":"5","key":"1430_CR96","doi-asserted-by":"crossref","first-page":"e1002690","DOI":"10.1371\/journal.pgen.1002690","volume":"8","author":"C Misra","year":"2012","unstructured":"Misra C, Sachan N, McNally CR, Koenig SN, Nichols HA, Guggilam A, Lucchesi PA, Pu WT, Srivastava D, Garg V (2012) Congenital heart disease-causing Gata4 mutation displays functional deficits in vivo. PLoS Genet 8(5):e1002690","journal-title":"PLoS Genet"},{"issue":"24","key":"1430_CR97","doi-asserted-by":"crossref","first-page":"5331","DOI":"10.1242\/dev.127.24.5331","volume":"127","author":"DG McFadden","year":"2000","unstructured":"McFadden DG, Charite J, Richardson JA, Srivastava D, Firulli AB, Olson EN (2000) A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart. Development 127(24):5331\u20135341","journal-title":"Development"},{"issue":"16","key":"1430_CR98","doi-asserted-by":"crossref","first-page":"3931","DOI":"10.1242\/dev.01256","volume":"131","author":"E Dodou","year":"2004","unstructured":"Dodou E, Verzi MP, Anderson JP, Xu SM, Black BL (2004) Mef2c is a direct transcriptional target of ISL1 and GATA factors in the anterior heart field during mouse embryonic development. Development 131(16):3931\u20133942","journal-title":"Development"},{"issue":"2","key":"1430_CR99","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1016\/j.ydbio.2008.11.004","volume":"326","author":"M Maitra","year":"2009","unstructured":"Maitra M, Schluterman MK, Nichols HA, Richardson JA, Lo CW, Srivastava D, Garg V (2009) Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development. Dev Biol 326(2):368\u2013377","journal-title":"Dev Biol"},{"issue":"2","key":"1430_CR100","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1093\/cvr\/cvr112","volume":"91","author":"F Greulich","year":"2011","unstructured":"Greulich F, Rudat C, Kispert A (2011) Mechanisms of T-box gene function in the developing heart. Cardiovasc Res 91(2):212\u2013222","journal-title":"Cardiovasc Res"},{"issue":"6","key":"1430_CR101","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1016\/S0092-8674(01)00493-7","volume":"106","author":"BG Bruneau","year":"2001","unstructured":"Bruneau BG, Nemer G, Schmitt JP, Charron F, Robitaille L, Caron S, Conner DA, Gessler M, Nemer M, Seidman CE, Seidman JG (2001) A murine model of Holt\u2013Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell 106(6):709\u2013721","journal-title":"Cell"},{"issue":"1","key":"1430_CR102","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1038\/ng0197-21","volume":"15","author":"QY Li","year":"1997","unstructured":"Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD (1997) Holt\u2013Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet 15(1):21\u201329","journal-title":"Nat Genet"},{"issue":"1","key":"1430_CR103","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1038\/ng0197-30","volume":"15","author":"CT Basson","year":"1997","unstructured":"Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE (1997) Mutations in human TBX5 (corrected) cause limb and cardiac malformation in Holt\u2013Oram syndrome. Nat Genet 15(1):30\u201335","journal-title":"Nat Genet"},{"issue":"2","key":"1430_CR104","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1086\/519530","volume":"81","author":"EP Kirk","year":"2007","unstructured":"Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, Mackay JP, Waddell LB, Cole AD, Hayward C, Keogh A, Macdonald P, Griffiths L, Fatkin D, Sholler GF, Zorn AM, Feneley MP, Winlaw DS, Harvey RP (2007) Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet 81(2):280\u2013291","journal-title":"Am J Hum Genet"},{"issue":"12","key":"1430_CR105","doi-asserted-by":"crossref","first-page":"2697","DOI":"10.1242\/dev.01854","volume":"132","author":"MK Singh","year":"2005","unstructured":"Singh MK, Christoffels VM, Dias JM, Trowe MO, Petry M, Schuster-Gossler K, Burger A, Ericson J, Kispert A (2005) Tbx20 is essential for cardiac chamber differentiation and repression of Tbx2. Development 132(12):2697\u20132707","journal-title":"Development"},{"issue":"10","key":"1430_CR106","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1242\/dev.01799","volume":"132","author":"FA Stennard","year":"2005","unstructured":"Stennard FA, Costa MW, Lai D, Biben C, Furtado MB, Solloway MJ, McCulley DJ, Leimena C, Preis JI, Dunwoodie SL, Elliott DE, Prall OW, Black BL, Fatkin D, Harvey RP (2005) Murine T-box transcription factor Tbx20 acts as a repressor during heart development, and is essential for adult heart integrity, function and adaptation. Development 132(10):2451\u20132462","journal-title":"Development"},{"issue":"10","key":"1430_CR107","doi-asserted-by":"crossref","first-page":"2475","DOI":"10.1242\/dev.01832","volume":"132","author":"CL Cai","year":"2005","unstructured":"Cai CL, Zhou W, Yang L, Bu L, Qyang Y, Zhang X, Li X, Rosenfeld MG, Chen J, Evans S (2005) T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis. Development 132(10):2475\u20132487","journal-title":"Development"},{"issue":"2","key":"1430_CR108","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1016\/j.ydbio.2011.09.023","volume":"360","author":"X Cai","year":"2011","unstructured":"Cai X, Nomura-Kitabayashi A, Cai W, Yan J, Christoffels VM, Cai CL (2011) Myocardial Tbx20 regulates early atrioventricular canal formation and endocardial epithelial-mesenchymal transition via Bmp2. Dev Biol 360(2):381\u2013390","journal-title":"Dev Biol"},{"issue":"3","key":"1430_CR109","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1002\/jcb.21686","volume":"104","author":"S Hammer","year":"2008","unstructured":"Hammer S, Toenjes M, Lange M, Fischer JJ, Dunkel I, Mebus S, Grimm CH, Hetzer R, Berger F, Sperling S (2008) Characterization of TBX20 in human hearts and its regulation by TFAP2. J Cell Biochem 104(3):1022\u20131033","journal-title":"J Cell Biochem"},{"issue":"1","key":"1430_CR110","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/75578","volume":"25","author":"M Satoda","year":"2000","unstructured":"Satoda M, Zhao F, Diaz GA, Burn J, Goodship J, Davidson HR, Pierpont ME, Gelb BD (2000) Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet 25(1):42\u201346","journal-title":"Nat Genet"},{"issue":"7","key":"1430_CR111","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1007\/s00246-011-0024-7","volume":"32","author":"YW Chen","year":"2011","unstructured":"Chen YW, Zhao W, Zhang ZF, Fu Q, Shen J, Zhang Z, Ji W, Wang J, Li F (2011) Familial nonsyndromic patent ductus arteriosus caused by mutations in TFAP2B. Pediatr Cardiol 32(7):958\u2013965","journal-title":"Pediatr Cardiol"},{"issue":"3","key":"1430_CR112","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1089\/gte.2008.0015","volume":"12","author":"M Khetyar","year":"2008","unstructured":"Khetyar M, Syrris P, Tinworth L, Abushaban L, Carter N (2008) Novel TFAP2B mutation in nonsyndromic patent ductus arteriosus. Genet Test 12(3):457\u2013459","journal-title":"Genet Test"},{"issue":"7","key":"1430_CR113","doi-asserted-by":"crossref","first-page":"e22908","DOI":"10.1371\/journal.pone.0022908","volume":"6","author":"F Zhao","year":"2011","unstructured":"Zhao F, Bosserhoff AK, Buettner R, Moser M (2011) A heart-hand syndrome gene: Tfap2b plays a critical role in the development and remodeling of mouse ductus arteriosus and limb patterning. PLoS One 6(7):e22908","journal-title":"PLoS One"},{"issue":"10","key":"1430_CR114","doi-asserted-by":"crossref","first-page":"8559","DOI":"10.1074\/jbc.M110850200","volume":"277","author":"J Braganca","year":"2002","unstructured":"Braganca J, Swingler T, Marques FI, Jones T, Eloranta JJ, Hurst HC, Shioda T, Bhattacharya S (2002) Human CREB-binding protein\/p300-interacting transactivator with ED-rich tail (CITED) 4, a new member of the CITED family, functions as a co-activator for transcription factor AP-2. J Biol Chem 277(10):8559\u20138565","journal-title":"J Biol Chem"},{"issue":"18","key":"1430_CR115","doi-asserted-by":"crossref","first-page":"16021","DOI":"10.1074\/jbc.M208144200","volume":"278","author":"J Braganca","year":"2003","unstructured":"Braganca J, Eloranta JJ, Bamforth SD, Ibbitt JC, Hurst HC, Bhattacharya S (2003) Physical and functional interactions among AP-2 transcription factors, p300\/CREB-binding protein, and CITED2. J Biol Chem 278(18):16021\u201316029","journal-title":"J Biol Chem"},{"issue":"6538","key":"1430_CR116","doi-asserted-by":"crossref","first-page":"348","DOI":"10.1038\/376348a0","volume":"376","author":"F Petrij","year":"1995","unstructured":"Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ (1995) Rubinstein\u2013Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 376(6538):348\u2013351","journal-title":"Nature"},{"issue":"4","key":"1430_CR117","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1086\/429130","volume":"76","author":"JH Roelfsema","year":"2005","unstructured":"Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen GJ, Breuning MH, Hennekam RC, Peters DJ (2005) Genetic heterogeneity in Rubinstein\u2013Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 76(4):572\u2013580","journal-title":"Am J Hum Genet"},{"issue":"12","key":"1430_CR118","doi-asserted-by":"crossref","first-page":"e28872","DOI":"10.1371\/journal.pone.0028872","volume":"6","author":"MG Posch","year":"2011","unstructured":"Posch MG, Waldmuller S, Muller M, Scheffold T, Fournier D, Andrade-Navarro MA, De GB, Guillaumont S, Dauphin C, Yousseff D, Schmitt KR, Perrot A, Berger F, Hetzer R, Bouvagnet P, Ozcelik C (2011) Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects. PLoS One 6(12):e28872","journal-title":"PLoS One"},{"issue":"20","key":"1430_CR119","doi-asserted-by":"crossref","first-page":"4007","DOI":"10.1093\/hmg\/ddq315","volume":"19","author":"JT Granados-Riveron","year":"2010","unstructured":"Granados-Riveron JT, Ghosh TK, Pope M, Bu\u2019Lock F, Thornborough C, Eason J, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Armour JA, David BJ (2010) Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet 19(20):4007\u20134016","journal-title":"Hum Mol Genet"},{"issue":"4","key":"1430_CR120","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1038\/ng1526","volume":"37","author":"YH Ching","year":"2005","unstructured":"Ching YH, Ghosh TK, Cross SJ, Packham EA, Honeyman L, Loughna S, Robinson TE, Dearlove AM, Ribas G, Bonser AJ, Thomas NR, Scotter AJ, Caves LS, Tyrrell GP, Newbury-Ecob RA, Munnich A, Bonnet D, Brook JD (2005) Mutation in myosin heavy chain 6 causes atrial septal defect. Nat Genet 37(4):423\u2013428","journal-title":"Nat Genet"},{"issue":"27","key":"1430_CR121","doi-asserted-by":"crossref","first-page":"24390","DOI":"10.1074\/jbc.M202490200","volume":"277","author":"YS Dai","year":"2002","unstructured":"Dai YS, Cserjesi P, Markham BE, Molkentin JD (2002) The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism. J Biol Chem 277(27):24390\u201324398","journal-title":"J Biol Chem"},{"issue":"8","key":"1430_CR122","doi-asserted-by":"crossref","first-page":"2205","DOI":"10.1128\/MCB.01923-08","volume":"29","author":"TK Ghosh","year":"2009","unstructured":"Ghosh TK, Song FF, Packham EA, Buxton S, Robinson TE, Ronksley J, Self T, Bonser AJ, Brook JD (2009) Physical interaction between TBX5 and MEF2C is required for early heart development. Mol Cell Biol 29(8):2205\u20132218","journal-title":"Mol Cell Biol"},{"issue":"1","key":"1430_CR123","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1161\/CIRCGENETICS.110.957985","volume":"4","author":"AV Postma","year":"2011","unstructured":"Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S (2011) Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circ Cardiovasc Genet 4(1):43\u201350","journal-title":"Circ Cardiovasc Genet"},{"issue":"2","key":"1430_CR124","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1093\/hmg\/ddm302","volume":"17","author":"H Matsson","year":"2008","unstructured":"Matsson H, Eason J, Bookwalter CS, Klar J, Gustavsson P, Sunnegardh J, Enell H, Jonzon A, Vikkula M, Gutierrez I, Granados-Riveron J, Pope M, Bu\u2019Lock F, Cox J, Robinson TE, Song F, Brook DJ, Marston S, Trybus KM, Dahl N (2008) Alpha-cardiac actin mutations produce atrial septal defects. Hum Mol Genet 17(2):256\u2013265","journal-title":"Hum Mol Genet"},{"issue":"3","key":"1430_CR125","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/ng1721","volume":"38","author":"L Zhu","year":"2006","unstructured":"Zhu L, Vranckx R, Van Khau KP, Lalande A, Boisset N, Mathieu F, Wegman M, Glancy L, Gasc JM, Brunotte F, Bruneval P, Wolf JE, Michel JB, Jeunemaitre X (2006) Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm\/aortic dissection and patent ductus arteriosus. Nat Genet 38(3):343\u2013349","journal-title":"Nat Genet"},{"issue":"6","key":"1430_CR126","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1038\/35014065","volume":"2","author":"I Morano","year":"2000","unstructured":"Morano I, Chai GX, Baltas LG, Lamounier-Zepter V, Lutsch G, Kott M, Haase H, Bader M (2000) Smooth-muscle contraction without smooth-muscle myosin. Nat Cell Biol 2(6):371\u2013375","journal-title":"Nat Cell Biol"},{"issue":"1","key":"1430_CR127","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1159\/000262481","volume":"98","author":"R Bokenkamp","year":"2010","unstructured":"Bokenkamp R, DeRuiter MC, van Munsteren C, Gittenberger-de-Groot AC (2010) Insights into the pathogenesis and genetic background of patency of the ductus arteriosus. Neonatology 98(1):6\u201317","journal-title":"Neonatology"},{"issue":"5","key":"1430_CR128","doi-asserted-by":"crossref","first-page":"1003","DOI":"10.1161\/01.ATV.17.5.1003","volume":"17","author":"J Slomp","year":"1997","unstructured":"Slomp J, Gittenberger-de Groot AC, Glukhova MA, van Conny MJ, Kockx MM, Schwartz SM, Koteliansky VE (1997) Differentiation, dedifferentiation, and apoptosis of smooth muscle cells during the development of the human ductus arteriosus. Arterioscler Thromb Vasc Biol 17(5):1003\u20131009","journal-title":"Arterioscler Thromb Vasc Biol"},{"key":"1430_CR129","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1146\/annurev-physiol-020911-153242","volume":"74","author":"CP Chang","year":"2012","unstructured":"Chang CP, Bruneau BG (2012) Epigenetics and cardiovascular development. Annu Rev Physiol 74:41\u201368","journal-title":"Annu Rev Physiol"},{"issue":"7","key":"1430_CR130","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1002\/ajmg.a.34074","volume":"155A","author":"MC Hannibal","year":"2011","unstructured":"Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou JW, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ (2011) Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 155A(7):1511\u20131516","journal-title":"Am J Med Genet A"},{"issue":"4","key":"1430_CR131","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.1265","volume":"100","author":"MC Digilio","year":"2001","unstructured":"Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B (2001) Congenital heart defects in Kabuki syndrome. Am J Med Genet 100(4):269\u2013274","journal-title":"Am J Med Genet"},{"issue":"9","key":"1430_CR132","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/ng.646","volume":"42","author":"SB Ng","year":"2010","unstructured":"Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J (2010) Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42(9):790\u2013793","journal-title":"Nat Genet"},{"issue":"3","key":"1430_CR133","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.ceb.2008.03.019","volume":"20","author":"A Shilatifard","year":"2008","unstructured":"Shilatifard A (2008) Molecular implementation and physiological roles for histone H3 lysine 4 (H3K4) methylation. Curr Opin Cell Biol 20(3):341\u2013348","journal-title":"Curr Opin Cell Biol"},{"issue":"2","key":"1430_CR134","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1086\/500273","volume":"78","author":"SR Lalani","year":"2006","unstructured":"Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW (2006) Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet 78(2):303\u2013314","journal-title":"Am J Hum Genet"},{"issue":"4","key":"1430_CR135","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1136\/jmg.2005.036061","volume":"43","author":"MC Jongmans","year":"2006","unstructured":"Jongmans MC, Admiraal RJ, van der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, van Geurts KA, de Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM (2006) CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 43(4):306\u2013314","journal-title":"J Med Genet"},{"issue":"2","key":"1430_CR136","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/BF00796983","volume":"14","author":"RK Wyse","year":"1993","unstructured":"Wyse RK, al-Mahdawi S, Burn J, Blake K (1993) Congenital heart disease in CHARGE association. Pediatr Cardiol 14(2):75\u201381","journal-title":"Pediatr Cardiol"},{"issue":"9","key":"1430_CR137","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/ng1407","volume":"36","author":"LE Vissers","year":"2004","unstructured":"Vissers LE, van Ravenswaaij CM, Admiraal R, Hurst JA, de Vries BB, Janssen IM, van der Vliet WA, Huys EH, de Jong PJ, Hamel BC, Schoenmakers EF, Brunner HG, Veltman JA, van Kessel AG (2004) Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet 36(9):955\u2013957","journal-title":"Nat Genet"},{"issue":"4","key":"1430_CR138","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1101\/gr.086983.108","volume":"19","author":"MP Schnetz","year":"2009","unstructured":"Schnetz MP, Bartels CF, Shastri K, Balasubramanian D, Zentner GE, Balaji R, Zhang X, Song L, Wang Z, Laframboise T, Crawford GE, Scacheri PC (2009) Genomic distribution of CHD7 on chromatin tracks H3K4 methylation patterns. Genome Res 19(4):590\u2013601","journal-title":"Genome Res"},{"issue":"7283","key":"1430_CR139","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/nature08733","volume":"463","author":"R Bajpai","year":"2010","unstructured":"Bajpai R, Chen DA, Rada-Iglesias A, Zhang J, Xiong Y, Helms J, Chang CP, Zhao Y, Swigut T, Wysocka J (2010) CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature 463(7283):958\u2013962","journal-title":"Nature"},{"issue":"1","key":"1430_CR140","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.diff.2012.04.005","volume":"84","author":"A Keyte","year":"2012","unstructured":"Keyte A, Hutson MR (2012) The neural crest in cardiac congenital anomalies. Differentiation 84(1):25\u201340","journal-title":"Differentiation"},{"issue":"7453","key":"1430_CR141","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature12141","volume":"498","author":"S Zaidi","year":"2013","unstructured":"Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, Depalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe\u2019er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP (2013) De novo mutations in histone-modifying genes in congenital heart disease. Nature 498(7453):220\u2013223","journal-title":"Nature"},{"issue":"3","key":"1430_CR142","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1007\/s00246-002-9402-5","volume":"24","author":"JA Harris","year":"2003","unstructured":"Harris JA, Francannet C, Pradat P, Robert E (2003) The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malformations. Pediatr Cardiol 24(3):222\u2013235","journal-title":"Pediatr Cardiol"},{"issue":"8","key":"1430_CR143","doi-asserted-by":"crossref","first-page":"1142","DOI":"10.1111\/j.1651-2227.2007.00381.x","volume":"96","author":"A Meberg","year":"2007","unstructured":"Meberg A, Hals J, Thaulow E (2007) Congenital heart defects\u2013chromosomal anomalies, syndromes and extracardiac malformations. Acta Paediatr 96(8):1142\u20131145","journal-title":"Acta Paediatr"},{"issue":"6","key":"1430_CR144","doi-asserted-by":"crossref","first-page":"622","DOI":"10.1017\/S1047951104006079","volume":"14","author":"R Schellberg","year":"2004","unstructured":"Schellberg R, Schwanitz G, Gravinghoff L, Kallenberg R, Trost D, Raff R, Wiebe W (2004) New trends in chromosomal investigation in children with cardiovascular malformations. Cardiol Young 14(6):622\u2013629","journal-title":"Cardiol Young"},{"issue":"51","key":"1430_CR145","first-page":"1301","volume":"54","author":"Centers for Disease Control and Prevention (CDC)","year":"2006","unstructured":"Centers for Disease Control and Prevention (CDC) (2006) Improved national prevalence estimates for 18 selected major birth defects\u2013United States, 1999\u20132001. MMWR Morb Mortal Wkly Rep 54(51):1301\u20131305","journal-title":"MMWR Morb Mortal Wkly Rep"},{"issue":"3","key":"1430_CR146","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1097\/GIM.0b013e3181634867","volume":"10","author":"SB Freeman","year":"2008","unstructured":"Freeman SB, Bean LH, Allen EG, Tinker SW, Locke AE, Druschel C, Hobbs CA, Romitti PA, Royle MH, Torfs CP, Dooley KJ, Sherman SL (2008) Ethnicity, sex, and the incidence of congenital heart defects: a report from the national Down syndrome project. Genet Med 10(3):173\u2013180","journal-title":"Genet Med"},{"issue":"1","key":"1430_CR147","doi-asserted-by":"crossref","first-page":"F38","DOI":"10.1136\/fn.75.1.F38","volume":"75","author":"ND Embleton","year":"1996","unstructured":"Embleton ND, Wyllie JP, Wright MJ, Burn J, Hunter S (1996) Natural history of trisomy 18. Arch Dis Child Fetal Neonatal Ed 75(1):F38\u2013F41","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"issue":"9","key":"1430_CR148","doi-asserted-by":"crossref","first-page":"945","DOI":"10.1002\/ajmg.a.31173","volume":"140","author":"HY Lin","year":"2006","unstructured":"Lin HY, Lin SP, Chen YJ, Hung HY, Kao HA, Hsu CH, Chen MR, Chang JH, Ho CS, Huang FY, Shyur SD, Lin DS, Lee HC (2006) Clinical characteristics and survival of trisomy 18 in a medical center in Taipei, 1988\u20132004. Am J Med Genet A 140(9):945\u2013951","journal-title":"Am J Med Genet A"},{"issue":"5","key":"1430_CR149","doi-asserted-by":"crossref","first-page":"688","DOI":"10.1016\/S0022-3476(98)70119-2","volume":"133","author":"L Mazzanti","year":"1998","unstructured":"Mazzanti L, Cacciari E (1998) Congenital heart disease in patients with Turner\u2019s syndrome. Italian study group for Turner syndrome (ISGTS). J Pediatr 133(5):688\u2013692","journal-title":"J Pediatr"},{"issue":"4","key":"1430_CR150","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1136\/adc.71.4.343","volume":"71","author":"JP Wyllie","year":"1994","unstructured":"Wyllie JP, Wright MJ, Burn J, Hunter S (1994) Natural history of trisomy 13. Arch Dis Child 71(4):343\u2013345","journal-title":"Arch Dis Child"},{"issue":"1","key":"1430_CR151","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/ddrr.10","volume":"14","author":"DM Donald-McGinn","year":"2008","unstructured":"Donald-McGinn DM, Zackai EH (2008) Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev 14(1):69\u201374","journal-title":"Dev Disabil Res Rev"},{"issue":"4","key":"1430_CR152","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1097\/GIM.0b013e31816b64c2","volume":"10","author":"Z Ou","year":"2008","unstructured":"Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A (2008) Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med 10(4):267\u2013277","journal-title":"Genet Med"},{"issue":"3","key":"1430_CR153","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/85845","volume":"27","author":"LA Jerome","year":"2001","unstructured":"Jerome LA, Papaioannou VE (2001) DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1. Nat Genet 27(3):286\u2013291","journal-title":"Nat Genet"},{"issue":"6824","key":"1430_CR154","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/35065105","volume":"410","author":"EA Lindsay","year":"2001","unstructured":"Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A (2001) Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice. Nature 410(6824):97\u2013101","journal-title":"Nature"},{"issue":"13","key":"1430_CR155","doi-asserted-by":"crossref","first-page":"3217","DOI":"10.1242\/dev.01174","volume":"131","author":"H Xu","year":"2004","unstructured":"Xu H, Morishima M, Wylie JN, Schwartz RJ, Bruneau BG, Lindsay EA, Baldini A (2004) Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract. Development 131(13):3217\u20133227","journal-title":"Development"},{"issue":"9393","key":"1430_CR156","doi-asserted-by":"crossref","first-page":"1366","DOI":"10.1016\/S0140-6736(03)14632-6","volume":"362","author":"H Yagi","year":"2003","unstructured":"Yagi H, Furutani Y, Hamada H, Sasaki T, Asakawa S, Minoshima S, Ichida F, Joo K, Kimura M, Imamura S, Kamatani N, Momma K, Takao A, Nakazawa M, Shimizu N, Matsuoka R (2003) Role of TBX1 in human del22q11.2 syndrome. Lancet 362(9393):1366\u20131373","journal-title":"Lancet"},{"issue":"3","key":"1430_CR157","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1086\/511993","volume":"80","author":"C Zweier","year":"2007","unstructured":"Zweier C, Sticht H, Aydin-Yaylagul I, Campbell CE, Rauch A (2007) Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet 80(3):510\u2013517","journal-title":"Am J Hum Genet"},{"issue":"22","key":"1430_CR158","doi-asserted-by":"crossref","first-page":"2549","DOI":"10.1093\/hmg\/10.22.2549","volume":"10","author":"B Funke","year":"2001","unstructured":"Funke B, Epstein JA, Kochilas LK, Lu MM, Pandita RK, Liao J, Bauerndistel R, Schuler T, Schorle H, Brown MC, Adams J, Morrow BE (2001) Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome\/DiGeorge syndrome have middle and inner ear defects. Hum Mol Genet 10(22):2549\u20132556","journal-title":"Hum Mol Genet"},{"issue":"15","key":"1430_CR159","doi-asserted-by":"crossref","first-page":"1577","DOI":"10.1093\/hmg\/ddh176","volume":"13","author":"J Liao","year":"2004","unstructured":"Liao J, Kochilas L, Nowotschin S, Arnold JS, Aggarwal VS, Epstein JA, Brown MC, Adams J, Morrow BE (2004) Full spectrum of malformations in velo-cardio-facial syndrome\/DiGeorge syndrome mouse models by altering Tbx1 dosage. Hum Mol Genet 13(15):1577\u20131585","journal-title":"Hum Mol Genet"},{"issue":"10","key":"1430_CR160","doi-asserted-by":"crossref","first-page":"E62","DOI":"10.1136\/jmg.39.10.e62","volume":"39","author":"S Garcia-Minaur","year":"2002","unstructured":"Garcia-Minaur S, Fantes J, Murray RS, Porteous ME, Strain L, Burns JE, Stephen J, Warner JP (2002) A novel atypical 22q11.2 distal deletion in father and son. J Med Genet 39(10):E62","journal-title":"J Med Genet"},{"issue":"11","key":"1430_CR161","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1136\/jmg.2004.030619","volume":"42","author":"A Rauch","year":"2005","unstructured":"Rauch A, Zink S, Zweier C, Thiel CT, Koch A, Rauch R, Lascorz J, Huffmeier U, Weyand M, Singer H, Hofbeck M (2005) Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2. J Med Genet 42(11):871\u2013876","journal-title":"J Med Genet"},{"issue":"4","key":"1430_CR162","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1002\/ajmg.a.35214","volume":"158A","author":"KM Sorensen","year":"2012","unstructured":"Sorensen KM, El-Segaier M, Fernlund E, Errami A, Bouvagnet P, Nehme N, Steensberg J, Hjortdal V, Soller M, Behjati M, Werge T, Kirchoff M, Schouten J, Tommerup N, Andersen PS, Larsen LA (2012) Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: early diagnosis of syndromic patients. Am J Med Genet A 158A(4):720\u2013725","journal-title":"Am J Med Genet A"},{"issue":"3","key":"1430_CR163","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1038\/85855","volume":"27","author":"DL Guris","year":"2001","unstructured":"Guris DL, Fantes J, Tara D, Druker BJ, Imamoto A (2001) Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome. Nat Genet 27(3):293\u2013298","journal-title":"Nat Genet"},{"issue":"1","key":"1430_CR164","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.devcel.2005.12.002","volume":"10","author":"DL Guris","year":"2006","unstructured":"Guris DL, Duester G, Papaioannou VE, Imamoto A (2006) Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Dev Cell 10(1):81\u201392","journal-title":"Dev Cell"},{"issue":"1","key":"1430_CR165","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1016\/j.devcel.2005.12.003","volume":"10","author":"AM Moon","year":"2006","unstructured":"Moon AM, Guris DL, Seo JH, Li L, Hammond J, Talbot A, Imamoto A (2006) Crkl deficiency disrupts Fgf8 signaling in a mouse model of 22q11 deletion syndromes. Dev Cell 10(1):71\u201380","journal-title":"Dev Cell"},{"issue":"2","key":"1430_CR166","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ydbio.2008.01.037","volume":"316","author":"J Liao","year":"2008","unstructured":"Liao J, Aggarwal VS, Nowotschin S, Bondarev A, Lipner S, Morrow BE (2008) Identification of downstream genetic pathways of Tbx1 in the second heart field. Dev Biol 316(2):524\u2013537","journal-title":"Dev Biol"},{"issue":"23","key":"1430_CR167","doi-asserted-by":"crossref","first-page":"3394","DOI":"10.1093\/hmg\/ddl416","volume":"15","author":"C Roberts","year":"2006","unstructured":"Roberts C, Ivins S, Cook AC, Baldini A, Scambler PJ (2006) Cyp26 genes a1, b1 and c1 are down-regulated in Tbx1 null mice and inhibition of Cyp26 enzyme function produces a phenocopy of DiGeorge Syndrome in the chick. Hum Mol Genet 15(23):3394\u20133410","journal-title":"Hum Mol Genet"},{"issue":"2","key":"1430_CR168","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1016\/j.ydbio.2005.06.026","volume":"285","author":"S Ivins","year":"2005","unstructured":"Ivins S, van Lammerts BK, Roberts C, James C, Lindsay E, Baldini A, Ataliotis P, Scambler PJ (2005) Microarray analysis detects differentially expressed genes in the pharyngeal region of mice lacking Tbx1. Dev Biol 285(2):554\u2013569","journal-title":"Dev Biol"},{"issue":"4","key":"1430_CR169","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/dvdy.20268","volume":"232","author":"C Roberts","year":"2005","unstructured":"Roberts C, Ivins SM, James CT, Scambler PJ (2005) Retinoic acid down-regulates Tbx1 expression in vivo and in vitro. Dev Dyn 232(4):928\u2013938","journal-title":"Dev Dyn"},{"issue":"1","key":"1430_CR170","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1006\/dbio.2001.0283","volume":"235","author":"V Garg","year":"2001","unstructured":"Garg V, Yamagishi C, Hu T, Kathiriya IS, Yamagishi H, Srivastava D (2001) Tbx1, a DiGeorge syndrome candidate gene, is regulated by sonic hedgehog during pharyngeal arch development. Dev Biol 235(1):62\u201373","journal-title":"Dev Biol"},{"issue":"2","key":"1430_CR171","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1101\/gad.1048903","volume":"17","author":"H Yamagishi","year":"2003","unstructured":"Yamagishi H, Maeda J, Hu T, McAnally J, Conway SJ, Kume T, Meyers EN, Yamagishi C, Srivastava D (2003) Tbx1 is regulated by tissue-specific forkhead proteins through a common Sonic hedgehog-responsive enhancer. Genes Dev 17(2):269\u2013281","journal-title":"Genes Dev"},{"issue":"21","key":"1430_CR172","doi-asserted-by":"crossref","first-page":"5491","DOI":"10.1242\/dev.01399","volume":"131","author":"T Hu","year":"2004","unstructured":"Hu T, Yamagishi H, Maeda J, McAnally J, Yamagishi C, Srivastava D (2004) Tbx1 regulates fibroblast growth factors in the anterior heart field through a reinforcing autoregulatory loop involving forkhead transcription factors. Development 131(21):5491\u20135502","journal-title":"Development"},{"issue":"19","key":"1430_CR173","doi-asserted-by":"crossref","first-page":"4605","DOI":"10.1242\/dev.129.19.4605","volume":"129","author":"F Vitelli","year":"2002","unstructured":"Vitelli F, Taddei I, Morishima M, Meyers EN, Lindsay EA, Baldini A (2002) A genetic link between Tbx1 and fibroblast growth factor signaling. Development 129(19):4605\u20134611","journal-title":"Development"},{"issue":"4","key":"1430_CR174","doi-asserted-by":"crossref","first-page":"1585","DOI":"10.1172\/JCI44630","volume":"121","author":"C Guo","year":"2011","unstructured":"Guo C, Sun Y, Zhou B, Adam RM, Li X, Pu WT, Morrow BE, Moon A, Li X (2011) A Tbx1-Six1\/Eya1-Fgf8 genetic pathway controls mammalian cardiovascular and craniofacial morphogenesis. J Clin Invest 121(4):1585\u20131595","journal-title":"J Clin Invest"},{"issue":"6","key":"1430_CR175","doi-asserted-by":"crossref","first-page":"e6049","DOI":"10.1371\/journal.pone.0006049","volume":"4","author":"FG Fulcoli","year":"2009","unstructured":"Fulcoli FG, Huynh T, Scambler PJ, Baldini A (2009) Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner. PLoS One 4(6):e6049","journal-title":"PLoS One"},{"issue":"1","key":"1430_CR176","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1038\/ng0993-11","volume":"5","author":"AK Ewart","year":"1993","unstructured":"Ewart AK, Morris CA, Atkinson D, Jin W, Sternes K, Spallone P, Stock AD, Leppert M, Keating MT (1993) Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. Nat Genet 5(1):11\u201316","journal-title":"Nat Genet"},{"issue":"1","key":"1430_CR177","first-page":"49","volume":"57","author":"MC Lowery","year":"1995","unstructured":"Lowery MC, Morris CA, Ewart A, Brothman LJ, Zhu XL, Leonard CO, Carey JC, Keating M, Brothman AR (1995) Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients. Am J Hum Genet 57(1):49\u201353","journal-title":"Am J Hum Genet"},{"key":"1430_CR178","unstructured":"Perez Jurado LA, Peoples R, Kaplan P, Hamel BC, Francke U (1996) Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth. Am J Hum Genet 59(4):781\u2013792"},{"issue":"3","key":"1430_CR179","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1056\/NEJMra0903074","volume":"362","author":"BR Pober","year":"2010","unstructured":"Pober BR (2010) Williams\u2013Beuren syndrome. N Engl J Med 362(3):239\u2013252","journal-title":"N Engl J Med"},{"issue":"6","key":"1430_CR180","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1017\/S1047951109990837","volume":"19","author":"A Pasqua del","year":"2009","unstructured":"del Pasqua A, Rinelli G, Toscano A, Iacobelli R, Digilio C, Marino B, Saffirio C, Mondillo S, Pasquini L, Sanders SP, de Zorzi A (2009) New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams\u2013Beuren\u2013Beuren syndrome. Cardiol Young 19(6):563\u2013567","journal-title":"Cardiol Young"},{"issue":"8","key":"1430_CR181","doi-asserted-by":"crossref","first-page":"554","DOI":"10.1136\/jmg.39.8.554","volume":"39","author":"M Eronen","year":"2002","unstructured":"Eronen M, Peippo M, Hiippala A, Raatikka M, Arvio M, Johansson R, Kahkonen M (2002) Cardiovascular manifestations in 75 patients with Williams syndrome. J Med Genet 39(8):554\u2013558","journal-title":"J Med Genet"},{"issue":"1","key":"1430_CR182","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/S0092-8674(00)80077-X","volume":"86","author":"JM Frangiskakis","year":"1996","unstructured":"Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, Klein BP, Ensing GJ, Everett LA, Green ED, Proschel C, Gutowski NJ, Noble M, Atkinson DL, Odelberg SJ, Keating MT (1996) LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell 86(1):59\u201369","journal-title":"Cell"},{"issue":"1","key":"1430_CR183","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1086\/302214","volume":"64","author":"M Tassabehji","year":"1999","unstructured":"Tassabehji M, Metcalfe K, Karmiloff-Smith A, Carette MJ, Grant J, Dennis N, Reardon W, Splitt M, Read AP, Donnai D (1999) Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes. Am J Hum Genet 64(1):118\u2013125","journal-title":"Am J Hum Genet"},{"issue":"7","key":"1430_CR184","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1093\/hmg\/6.7.1021","volume":"6","author":"DY Li","year":"1997","unstructured":"Li DY, Toland AE, Boak BB, Atkinson DL, Ensing GJ, Morris CA, Keating MT (1997) Elastin point mutations cause an obstructive vascular disease, supravalvular aortic stenosis. Hum Mol Genet 6(7):1021\u20131028","journal-title":"Hum Mol Genet"},{"issue":"12","key":"1430_CR185","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1038\/sj.ejhg.5200564","volume":"8","author":"K Metcalfe","year":"2000","unstructured":"Metcalfe K, Rucka AK, Smoot L, Hofstadler G, Tuzler G, McKeown P, Siu V, Rauch A, Dean J, Dennis N, Ellis I, Reardon W, Cytrynbaum C, Osborne L, Yates JR, Read AP, Donnai D, Tassabehji M (2000) Elastin: mutational spectrum in supravalvular aortic stenosis. Eur J Hum Genet 8(12):955\u2013963","journal-title":"Eur J Hum Genet"},{"issue":"10","key":"1430_CR186","doi-asserted-by":"crossref","first-page":"1783","DOI":"10.1172\/JCI4487","volume":"102","author":"DY Li","year":"1998","unstructured":"Li DY, Faury G, Taylor DG, Davis EC, Boyle WA, Mecham RP, Stenzel P, Boak B, Keating MT (1998) Novel arterial pathology in mice and humans hemizygous for elastin. J Clin Invest 102(10):1783\u20131787","journal-title":"J Clin Invest"},{"issue":"23","key":"1430_CR187","doi-asserted-by":"crossref","first-page":"9280","DOI":"10.1073\/pnas.0901184106","volume":"106","author":"K Yoshimura","year":"2009","unstructured":"Yoshimura K, Kitagawa H, Fujiki R, Tanabe M, Takezawa S, Takada I, Yamaoka I, Yonezawa M, Kondo T, Furutani Y, Yagi H, Yoshinaga S, Masuda T, Fukuda T, Yamamoto Y, Ebihara K, Li DY, Matsuoka R, Takeuchi JK, Matsumoto T, Kato S (2009) Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF). Proc Natl Acad Sci USA 106(23):9280\u20139285","journal-title":"Proc Natl Acad Sci USA"},{"issue":"7","key":"1430_CR188","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1016\/S0092-8674(03)00436-7","volume":"113","author":"H Kitagawa","year":"2003","unstructured":"Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (2003) The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome. Cell 113(7):905\u2013917","journal-title":"Cell"},{"issue":"9","key":"1430_CR189","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1093\/emboj\/21.9.2231","volume":"21","author":"L Bozhenok","year":"2002","unstructured":"Bozhenok L, Wade PA, Varga-Weisz P (2002) WSTF-ISWI chromatin remodeling complex targets heterochromatic replication foci. EMBO J 21(9):2231\u20132241","journal-title":"EMBO J"},{"issue":"24","key":"1430_CR190","doi-asserted-by":"crossref","first-page":"16264","DOI":"10.1074\/jbc.M600233200","volume":"281","author":"E Cavellan","year":"2006","unstructured":"Cavellan E, Asp P, Percipalle P, Farrants AK (2006) The WSTF-SNF2\u00a0h chromatin remodeling complex interacts with several nuclear proteins in transcription. J Biol Chem 281(24):16264\u201316271","journal-title":"J Biol Chem"},{"issue":"12","key":"1430_CR191","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1038\/ncb1196","volume":"6","author":"RA Poot","year":"2004","unstructured":"Poot RA, Bozhenok L, van den Berg DL, Steffensen S, Ferreira F, Grimaldi M, Gilbert N, Ferreira J, Varga-Weisz PD (2004) The Williams syndrome transcription factor interacts with PCNA to target chromatin remodelling by ISWI to replication foci. Nat Cell Biol 6(12):1236\u20131244","journal-title":"Nat Cell Biol"},{"issue":"2","key":"1430_CR192","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1136\/jmg.2007.052910","volume":"45","author":"NM Maas","year":"2008","unstructured":"Maas NM, Van BG, Hannes F, Thienpont B, Sanlaville D, Kok K, Midro A, Andrieux J, Anderlid BM, Schoumans J, Hordijk R, Devriendt K, Fryns JP, Vermeesch JR (2008) Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH). J Med Genet 45(2):71\u201380","journal-title":"J Med Genet"},{"issue":"7252","key":"1430_CR193","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/nature08086","volume":"460","author":"K Nimura","year":"2009","unstructured":"Nimura K, Ura K, Shiratori H, Ikawa M, Okabe M, Schwartz RJ, Kaneda Y (2009) A histone H3 lysine 36 trimethyltransferase links Nk2\u20135 to Wolf-Hirschhorn syndrome. Nature 460(7252):287\u2013291","journal-title":"Nature"},{"issue":"5\u20136","key":"1430_CR194","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1242\/dmm.002287","volume":"2","author":"C Catela","year":"2009","unstructured":"Catela C, Bilbao-Cortes D, Slonimsky E, Kratsios P, Rosenthal N, Te WP (2009) Multiple congenital malformations of Wolf\u2013Hirschhorn syndrome are recapitulated in Fgfrl1 null mice. Dis Model Mech 2(5\u20136):283\u2013294","journal-title":"Dis Model Mech"},{"issue":"8","key":"1430_CR195","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1002\/ajmg.a.32896","volume":"149A","author":"MJ Wat","year":"2009","unstructured":"Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH (2009) Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A 149A(8):1661\u20131677","journal-title":"Am J Med Genet A"},{"issue":"6","key":"1430_CR196","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1016\/j.ejmg.2008.06.005","volume":"51","author":"W Zhang","year":"2008","unstructured":"Zhang W, Li X, Shen A, Jiao W, Guan X, Li Z (2008) GATA4 mutations in 486 Chinese patients with congenital heart disease. Eur J Med Genet 51(6):527\u2013535","journal-title":"Eur J Med Genet"},{"issue":"16","key":"1430_CR197","doi-asserted-by":"crossref","first-page":"1685","DOI":"10.1056\/NEJMoa0805384","volume":"359","author":"HC Mefford","year":"2008","unstructured":"Mefford HC, Sharp AJ, Baker C, Itsara A, Jiang Z, Buysse K, Huang S, Maloney VK, Crolla JA, Baralle D, Collins A, Mercer C, Norga K, de Ravel T, Devriendt K, Bongers EM, de Leeuw N, Reardon W, Gimelli S, Bena F, Hennekam RC, Male A, Gaunt L, Clayton-Smith J, Simonic I, Park SM, Mehta SG, Nik-Zainal S, Woods CG, Firth HV, Parkin G, Fichera M, Reitano S, Lo GM, Li KE, Casuga I, Broomer A, Conrad B, Schwerzmann M, Raber L, Gallati S, Striano P, Coppola A, Tolmie JL, Tobias ES, Lilley C, Armengol L, Spysschaert Y, Verloo P, De Coene A, Goossens L, Mortier G, Speleman F, van Binsbergen E, Nelen MR, Hochstenbach R, Poot M, Gallagher L, Gill M, McClellan J, King MC, Regan R, Skinner C, Stevenson RE, Antonarakis SE, Chen C, Estivill X, Menten B, Gimelli G, Gribble S, Schwartz S, Sutcliffe JS, Walsh T, Knight SJ, Sebat J, Romano C, Schwartz CE, Veltman JA, de Vries BB, Vermeesch JR, Barber JC, Willatt L, Tassabehji M, Eichler EE (2008) Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med 359(16):1685\u20131699","journal-title":"N Engl J Med"},{"issue":"7","key":"1430_CR198","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1093\/hmg\/ddr589","volume":"21","author":"R Soemedi","year":"2012","unstructured":"Soemedi R, Topf A, Wilson IJ, Darlay R, Rahman T, Glen E, Hall D, Huang N, Bentham J, Bhattacharya S, Cosgrove C, Brook JD, Granados-Riveron J, Setchfield K, Bu\u2019Lock F, Thornborough C, Devriendt K, Breckpot J, Hofbeck M, Lathrop M, Rauch A, Blue GM, Winlaw DS, Hurles M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD (2012) Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet 21(7):1513\u20131520","journal-title":"Hum Mol Genet"},{"issue":"3","key":"1430_CR199","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1161\/01.RES.0000084852.65396.70","volume":"93","author":"H Gu","year":"2003","unstructured":"Gu H, Smith FC, Taffet SM, Delmar M (2003) High incidence of cardiac malformations in connexin40-deficient mice. Circ Res 93(3):201\u2013206","journal-title":"Circ Res"},{"issue":"5","key":"1430_CR200","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1161\/01.RES.87.5.399","volume":"87","author":"S Kirchhoff","year":"2000","unstructured":"Kirchhoff S, Kim JS, Hagendorff A, Thonnissen E, Kruger O, Lamers WH, Willecke K (2000) Abnormal cardiac conduction and morphogenesis in connexin40 and connexin43 double-deficient mice. Circ Res 87(5):399\u2013405","journal-title":"Circ Res"},{"issue":"Pt 4","key":"1430_CR201","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1242\/jcs.105.4.985","volume":"105","author":"RG Gourdie","year":"1993","unstructured":"Gourdie RG, Severs NJ, Green CR, Rothery S, Germroth P, Thompson RP (1993) The spatial distribution and relative abundance of gap-junctional connexin40 and connexin43 correlate to functional properties of components of the cardiac atrioventricular conduction system. J Cell Sci 105(Pt 4):985\u2013991","journal-title":"J Cell Sci"},{"issue":"5","key":"1430_CR202","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1161\/01.RES.74.5.839","volume":"74","author":"D Gros","year":"1994","unstructured":"Gros D, Jarry-Guichard T, Ten Velde I, de Maziere A, van Kempen MJ, Davoust J, Briand JP, Moorman AF, Jongsma HJ (1994) Restricted distribution of connexin40, a gap junctional protein, in mammalian heart. Circ Res 74(5):839\u2013851","journal-title":"Circ Res"},{"issue":"5","key":"1430_CR203","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/S0960-9822(98)70113-7","volume":"8","author":"AM Simon","year":"1998","unstructured":"Simon AM, Goodenough DA, Paul DL (1998) Mice lacking connexin40 have cardiac conduction abnormalities characteristic of atrioventricular block and bundle branch block. Curr Biol 8(5):295\u2013298","journal-title":"Curr Biol"},{"issue":"5","key":"1430_CR204","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0960-9822(98)70114-9","volume":"8","author":"S Kirchhoff","year":"1998","unstructured":"Kirchhoff S, Nelles E, Hagendorff A, Kruger O, Traub O, Willecke K (1998) Reduced cardiac conduction velocity and predisposition to arrhythmias in connexin40-deficient mice. Curr Biol 8(5):299\u2013302","journal-title":"Curr Biol"},{"issue":"2","key":"1430_CR205","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1086\/505693","volume":"79","author":"T Kleefstra","year":"2006","unstructured":"Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Genevieve D, Cormier-Daire V, Van EH, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H (2006) Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet 79(2):370\u2013377","journal-title":"Am J Hum Genet"},{"issue":"4","key":"1430_CR206","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1136\/jmg.2004.028464","volume":"42","author":"T Kleefstra","year":"2005","unstructured":"Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H (2005) Disruption of the gene euchromatin histone methyl transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome. J Med Genet 42(4):299\u2013306","journal-title":"J Med Genet"},{"issue":"4","key":"1430_CR207","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1002\/ajmg.a.30136","volume":"128A","author":"DR Stewart","year":"2004","unstructured":"Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M, Rossi E, Tenconi R, Nordenskjold M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID (2004) Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A 128A(4):340\u2013351","journal-title":"Am J Med Genet A"},{"key":"1430_CR208","doi-asserted-by":"crossref","unstructured":"Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle CB, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T (2012) Update on Kleefstra syndrome. Mol Syndromol 2(3\u20135):202\u2013212","DOI":"10.1159\/000335648"},{"issue":"7","key":"1430_CR209","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1101\/gad.1284005","volume":"19","author":"M Tachibana","year":"2005","unstructured":"Tachibana M, Ueda J, Fukuda M, Takeda N, Ohta T, Iwanari H, Sakihama T, Kodama T, Hamakubo T, Shinkai Y (2005) Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9. Genes Dev 19(7):815\u2013826","journal-title":"Genes Dev"},{"issue":"2","key":"1430_CR210","doi-asserted-by":"crossref","first-page":"144","DOI":"10.1016\/j.ejmg.2010.11.003","volume":"54","author":"C Dubourg","year":"2011","unstructured":"Dubourg C, Sanlaville D, Doco-Fenzy M, Le CC, Missirian C, Jaillard S, Schluth-Bolard C, Landais E, Boute O, Philip N, Toutain A, David A, Edery P, Moncla A, Martin-Coignard D, Vincent-Delorme C, Mortemousque I, Duban-Bedu B, Drunat S, Beri M, Mosser J, Odent S, David V, Andrieux J (2011) Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet 54(2):144\u2013151","journal-title":"Eur J Med Genet"},{"key":"1430_CR211","doi-asserted-by":"crossref","unstructured":"Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destree A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB (2008) Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet 45(11):710\u2013720","DOI":"10.1136\/jmg.2008.058701"},{"key":"1430_CR212","doi-asserted-by":"crossref","unstructured":"Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB (2012) Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet 44(6):639\u2013641","DOI":"10.1038\/ng.2262"},{"issue":"6","key":"1430_CR213","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1038\/ng.2257","volume":"44","author":"M Zollino","year":"2012","unstructured":"Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G (2012) Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet 44(6):636\u2013638","journal-title":"Nat Genet"},{"issue":"2","key":"1430_CR214","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.gde.2010.01.007","volume":"20","author":"C Laverty","year":"2010","unstructured":"Laverty C, Lucci J, Akhtar A (2010) The MSL complex: X chromosome and beyond. Curr Opin Genet Dev 20(2):171\u2013178","journal-title":"Curr Opin Genet Dev"},{"issue":"21","key":"1430_CR215","doi-asserted-by":"crossref","first-page":"9175","DOI":"10.1128\/MCB.25.21.9175-9188.2005","volume":"25","author":"ER Smith","year":"2005","unstructured":"Smith ER, Cayrou C, Huang R, Lane WS, Cote J, Lucchesi JC (2005) A human protein complex homologous to the Drosophila MSL complex is responsible for the majority of histone H4 acetylation at lysine 16. Mol Cell Biol 25(21):9175\u20139188","journal-title":"Mol Cell Biol"},{"key":"1430_CR216","doi-asserted-by":"crossref","unstructured":"Ballif BC, Theisen A, Rosenfeld JA, Traylor RN, Gastier-Foster J, Thrush DL, Astbury C, Bartholomew D, McBride KL, Pyatt RE, Shane K, Smith WE, Banks V, Gallentine WB, Brock P, Rudd MK, Adam MP, Keene JA, Phillips JA, III, Pfotenhauer JP, Gowans GC, Stankiewicz P, Bejjani BA, Shaffer LG (2010) Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities. Am J Hum Genet 86(3):454\u2013461","DOI":"10.1016\/j.ajhg.2010.01.038"},{"issue":"20","key":"1430_CR217","doi-asserted-by":"crossref","first-page":"5041","DOI":"10.1242\/dev.01378","volume":"131","author":"Z Harrelson","year":"2004","unstructured":"Harrelson Z, Kelly RG, Goldin SN, Gibson-Brown JJ, Bollag RJ, Silver LM, Papaioannou VE (2004) Tbx2 is essential for patterning the atrioventricular canal and for morphogenesis of the outflow tract during heart development. Development 131(20):5041\u20135052","journal-title":"Development"},{"issue":"4","key":"1430_CR218","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1002\/dvdy.10487","volume":"229","author":"VM Christoffels","year":"2004","unstructured":"Christoffels VM, Hoogaars WM, Tessari A, Clout DE, Moorman AF, Campione M (2004) T-box transcription factor Tbx2 represses differentiation and formation of the cardiac chambers. Dev Dyn 229(4):763\u2013770","journal-title":"Dev Dyn"},{"key":"1430_CR219","doi-asserted-by":"crossref","unstructured":"Habets PE, Moorman AF, Clout DE, van Roon MA, Lingbeek M, van Lohuizen M, Campione M, Christoffels VM (2002) Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. Genes Dev 16(10):1234\u20131246","DOI":"10.1101\/gad.222902"},{"key":"1430_CR220","doi-asserted-by":"crossref","unstructured":"Breckpot J, Thienpont B, Peeters H, de Ravel T, Singer A, Rayyan M, Allegaert K, Vanhole C, Eyskens B, Vermeesch JR, Gewillig M, Devriendt K (2010) Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J Pediatr 156(5):810\u2013817","DOI":"10.1016\/j.jpeds.2009.11.049"},{"key":"1430_CR221","doi-asserted-by":"crossref","unstructured":"Breckpot J, Thienpont B, Arens Y, Tranchevent LC, Vermeesch JR, Moreau Y, Gewillig M, Devriendt K (2011) Challenges of interpreting copy number variation in syndromic and non-syndromic congenital heart defects. Cytogenet Genome Res 135(3\u20134):251\u2013259","DOI":"10.1159\/000331272"},{"issue":"11","key":"1430_CR222","doi-asserted-by":"crossref","first-page":"704","DOI":"10.1136\/jmg.2008.058776","volume":"45","author":"F Erdogan","year":"2008","unstructured":"Erdogan F, Larsen LA, Zhang L, Tumer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R (2008) High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease. J Med Genet 45(11):704\u2013709","journal-title":"J Med Genet"},{"issue":"7","key":"1430_CR223","doi-asserted-by":"crossref","first-page":"2915","DOI":"10.1073\/pnas.1019645108","volume":"108","author":"KA Fakhro","year":"2011","unstructured":"Fakhro KA, Choi M, Ware SM, Belmont JW, Towbin JA, Lifton RP, Khokha MK, Brueckner M (2011) Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci USA 108(7):2915\u20132920","journal-title":"Proc Natl Acad Sci USA"},{"issue":"6","key":"1430_CR224","doi-asserted-by":"crossref","first-page":"592","DOI":"10.1111\/j.1747-0803.2011.00582.x","volume":"6","author":"E Goldmuntz","year":"2011","unstructured":"Goldmuntz E, Paluru P, Glessner J, Hakonarson H, Biegel JA, White PS, Gai X, Shaikh TH (2011) Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Congenit Heart Dis 6(6):592\u2013602","journal-title":"Congenit Heart Dis"},{"issue":"8","key":"1430_CR225","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1038\/ng.415","volume":"41","author":"SC Greenway","year":"2009","unstructured":"Greenway SC, Pereira AC, Lin JC, DePalma SR, Israel SJ, Mesquita SM, Ergul E, Conta JH, Korn JM, McCarroll SA, Gorham JM, Gabriel S, Altshuler DM, Quintanilla-Dieck ML, Artunduaga MA, Eavey RD, Plenge RM, Shadick NA, Weinblatt ME, De Jager PL, Hafler DA, Breitbart RE, Seidman JG, Seidman CE (2009) De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 41(8):931\u2013935","journal-title":"Nat Genet"},{"issue":"9","key":"1430_CR226","doi-asserted-by":"crossref","first-page":"e1002903","DOI":"10.1371\/journal.pgen.1002903","volume":"8","author":"MP Hitz","year":"2012","unstructured":"Hitz MP, Lemieux-Perreault LP, Marshall C, Feroz-Zada Y, Davies R, Yang SW, Lionel AC, D\u2019Amours G, Lemyre E, Cullum R, Bigras JL, Thibeault M, Chetaille P, Montpetit A, Khairy P, Overduin B, Klaassen S, Hoodless P, Nemer M, Stewart AF, Boerkoel C, Scherer SW, Richter A, Dube MP, Andelfinger G (2012) Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet 8(9):e1002903","journal-title":"PLoS Genet"},{"issue":"6","key":"1430_CR227","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1111\/j.1399-0004.2011.01674.x","volume":"81","author":"M Iascone","year":"2012","unstructured":"Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso AR, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto AM, Comas JV, Ferrazzi P, Zuffardi O (2012) Identification of de novo mutations and rare variants in hypoplastic left heart syndrome. Clin Genet 81(6):542\u2013554","journal-title":"Clin Genet"},{"issue":"2","key":"1430_CR228","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1038\/ejhg.2012.155","volume":"21","author":"SR Lalani","year":"2013","unstructured":"Lalani SR, Shaw C, Wang X, Patel A, Patterson LW, Kolodziejska K, Szafranski P, Ou Z, Tian Q, Kang SH, Jinnah A, Ali S, Malik A, Hixson P, Potocki L, Lupski JR, Stankiewicz P, Bacino CA, Dawson B, Beaudet AL, Boricha FM, Whittaker R, Li C, Ware SM, Cheung SW, Penny DJ, Jefferies JL, Belmont JW (2013) Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur J Hum Genet 21(2):173\u2013181","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"1430_CR229","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1007\/s00246-012-0208-9","volume":"33","author":"AR Payne","year":"2012","unstructured":"Payne AR, Chang SW, Koenig SN, Zinn AR, Garg V (2012) Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol 33(5):757\u2013763","journal-title":"Pediatr Cardiol"},{"key":"1430_CR230","doi-asserted-by":"crossref","unstructured":"Richards AA, Santos LJ, Nichols HA, Crider BP, Elder FF, Hauser NS, Zinn AR, Garg V (2008) Cryptic chromosomal abnormalities identified in children with congenital heart disease. Pediatr Res 64(4):358\u2013363","DOI":"10.1203\/PDR.0b013e31818095d0"},{"issue":"8","key":"1430_CR231","doi-asserted-by":"crossref","first-page":"e1002843","DOI":"10.1371\/journal.pgen.1002843","volume":"8","author":"CK Silversides","year":"2012","unstructured":"Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS (2012) Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet 8(8):e1002843","journal-title":"PLoS Genet"},{"issue":"3","key":"1430_CR232","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.ajhg.2012.08.003","volume":"91","author":"R Soemedi","year":"2012","unstructured":"Soemedi R, Wilson IJ, Bentham J, Darlay R, Topf A, Zelenika D, Cosgrove C, Setchfield K, Thornborough C, Granados-Riveron J, Blue GM, Breckpot J, Hellens S, Zwolinkski S, Glen E, Mamasoula C, Rahman TJ, Hall D, Rauch A, Devriendt K, Gewillig M, O\u2019Sullivan J, Winlaw DS, Bu\u2019Lock F, Brook JD, Bhattacharya S, Lathrop M, Santibanez-Koref M, Cordell HJ, Goodship JA, Keavney BD (2012) Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am J Hum Genet 91(3):489\u2013501","journal-title":"Am J Hum Genet"},{"key":"1430_CR233","doi-asserted-by":"crossref","unstructured":"Thienpont B, Mertens L, de Ravel T, Eyskens B, Boshoff D, Maas N, Fryns JP, Gewillig M, Vermeesch JR, Devriendt K (2007) Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J 28(22):2778\u20132784","DOI":"10.1093\/eurheartj\/ehl560"},{"issue":"9","key":"1430_CR234","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1152\/physiolgenomics.00013.2012","volume":"44","author":"A Tomita-Mitchell","year":"2012","unstructured":"Tomita-Mitchell A, Mahnke DK, Struble CA, Tuffnell ME, Stamm KD, Hidestrand M, Harris SE, Goetsch MA, Simpson PM, Bick DP, Broeckel U, Pelech AN, Tweddell JS, Mitchell ME (2012) Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics 44(9):518\u2013541","journal-title":"Physiol Genomics"},{"key":"1430_CR235","doi-asserted-by":"crossref","unstructured":"Aerts S, Lambrechts D, Maity S, Van Loo P, Coessens B, De Smet F, Tranchevent LC, De Moor B, Marynen P, Hassan B, Carmeliet P, Moreau Y (2006) Gene prioritization through genomic data fusion. Nat Biotechnol 24(5):537\u2013544","DOI":"10.1038\/nbt1203"},{"key":"1430_CR236","doi-asserted-by":"crossref","unstructured":"Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Mollgard K, Tommerup N, Bache I, Tumer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA (2010) Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet 86(6):839\u2013849","DOI":"10.1016\/j.ajhg.2010.04.011"},{"issue":"11","key":"1430_CR237","doi-asserted-by":"crossref","first-page":"2095","DOI":"10.1242\/dev.02384","volume":"133","author":"H Shiratori","year":"2006","unstructured":"Shiratori H, Hamada H (2006) The left-right axis in the mouse: from origin to morphology. Development 133(11):2095\u20132104","journal-title":"Development"},{"issue":"35","key":"1430_CR238","doi-asserted-by":"crossref","first-page":"14035","DOI":"10.1073\/pnas.1210730109","volume":"109","author":"K Lage","year":"2012","unstructured":"Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segre AV, Roberts AE, Smoot LB, Pu WT, Pereira AC, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, Donahoe PK, Daly MJ, Seidman JG, Seidman CE, Larsen LA (2012) Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci USA 109(35):14035\u201314040","journal-title":"Proc Natl Acad Sci USA"},{"issue":"6","key":"1430_CR239","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1038\/ejhg.2008.255","volume":"17","author":"KL McBride","year":"2009","unstructured":"McBride KL, Zender GA, Fitzgerald-Butt SM, Koehler D, Menesses-Diaz A, Fernbach S, Lee K, Towbin JA, Leal S, Belmont JW (2009) Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur J Hum Genet 17(6):811\u2013819","journal-title":"Eur J Hum Genet"},{"issue":"11","key":"1430_CR240","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1161\/CIRCULATIONAHA.109.887687","volume":"121","author":"JB Winston","year":"2010","unstructured":"Winston JB, Erlich JM, Green CA, Aluko A, Kaiser KA, Takematsu M, Barlow RS, Sureka AO, LaPage MJ, Janss LL, Jay PY (2010) Heterogeneity of genetic modifiers ensures normal cardiac development. Circulation 121(11):1313\u20131321","journal-title":"Circulation"},{"issue":"3","key":"1430_CR241","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1016\/j.cell.2012.03.028","volume":"149","author":"ME Talkowski","year":"2012","unstructured":"Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, Pereira S, Ruderfer D, Kirby A, Ripke S, Harris DJ, Lee JH, Ha K, Kim HG, Solomon BD, Gropman AL, Lucente D, Sims K, Ohsumi TK, Borowsky ML, Loranger S, Quade B, Lage K, Miles J, Wu BL, Shen Y, Neale B, Shaffer LG, Daly MJ, Morton CC, Gusella JF (2012) Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell 149(3):525\u2013537","journal-title":"Cell"},{"key":"1430_CR242","doi-asserted-by":"crossref","unstructured":"Hu Z, Shi Y, Mo X, Xu J, Zhao B, Lin Y, Yang S, Xu Z, Dai J, Pan S, Da M, Wang X, Qian B, Wen Y, Wen J, Xing J, Guo X, Xia Y, Ma H, Jin G, Yu S, Liu J, Zhou Z, Wang X, Chen Y, Sha J, Shen H (2013) A genome-wide association study identifies two risk loci for congenital heart malformations in Han Chinese populations. Nat Genet 45(7):818\u2013821","DOI":"10.1038\/ng.2636"},{"key":"1430_CR243","doi-asserted-by":"crossref","unstructured":"Cordell HJ, Bentham J, Topf A, Zelenika D, Heath S, Mamasoula C, Cosgrove C, Blue G, Granados-Riveron J, Setchfield K, Thornborough C, Breckpot J, Soemedi R, Martin R, Rahman TJ, Hall D, van Engelen K, Moorman AF, Zwinderman AH, Barnett P, Koopmann TT, Adriaens ME, Varro A, George AL Jr, Dos RC, Bishopric NH, Bezzina CR, O\u2019Sullivan J, Gewillig M, Bu\u2019Lock FA, Winlaw D, Bhattacharya S, Devriendt K, Brook JD, Mulder BJ, Mital S, Postma AV, Lathrop GM, Farrall M, Goodship JA, Keavney BD (2013) Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet 45(7):822\u2013824","DOI":"10.1038\/ng.2637"},{"key":"1430_CR244","doi-asserted-by":"crossref","unstructured":"Cordell HJ, Topf A, Mamasoula C, Postma AV, Bentham J, Zelenika D, Heath S, Blue G, Cosgrove C, Granados RJ, Darlay R, Soemedi R, Wilson IJ, Ayers KL, Rahman TJ, Hall D, Mulder BJ, Zwinderman AH, van Engelen K, Brook JD, Setchfield K, Bu\u2019Lock FA, Thornborough C, O\u2019Sullivan J, Stuart AG, Parsons J, Bhattacharya S, Winlaw D, Mital S, Gewillig M, Breckpot J, Devriendt K, Moorman AF, Rauch A, Lathrop GM, Keavney BD, Goodship JA (2013) Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum Mol Genet 22(7):1473\u20131481","DOI":"10.1093\/hmg\/dds552"},{"issue":"2","key":"1430_CR245","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.devcel.2010.01.008","volume":"18","author":"Y Tian","year":"2010","unstructured":"Tian Y, Yuan L, Goss AM, Wang T, Yang J, Lepore JJ, Zhou D, Schwartz RJ, Patel V, Cohen ED, Morrisey EE (2010) Characterization and in vivo pharmacological rescue of a Wnt2-Gata6 pathway required for cardiac inflow tract development. Dev Cell 18(2):275\u2013287","journal-title":"Dev Cell"},{"key":"1430_CR246","doi-asserted-by":"crossref","unstructured":"Chang SW, Mislankar M, Misra C, Huang N, Dajusta DG, Harrison SM, McBride KL, Baker LA, Garg V (2013) Genetic abnormalities in FOXP1 are associated with congenital heart defects. Hum Mutat (Epub ahead of print)","DOI":"10.1002\/humu.22366"},{"issue":"33","key":"1430_CR247","doi-asserted-by":"crossref","first-page":"13933","DOI":"10.1073\/pnas.0904744106","volume":"106","author":"K Kodo","year":"2009","unstructured":"Kodo K, Nishizawa T, Furutani M, Arai S, Yamamura E, Joo K, Takahashi T, Matsuoka R, Yamagishi H (2009) GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling. Proc Natl Acad Sci USA 106(33):13933\u201313938","journal-title":"Proc Natl Acad Sci USA"},{"issue":"4","key":"1430_CR248","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1203\/PDR.0b013e3181ed17e4","volume":"68","author":"M Maitra","year":"2010","unstructured":"Maitra M, Koenig SN, Srivastava D, Garg V (2010) Identification of GATA6 sequence variants in patients with congenital heart defects. Pediatr Res 68(4):281\u2013285","journal-title":"Pediatr Res"},{"issue":"5","key":"1430_CR249","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1007\/s00439-011-0996-7","volume":"130","author":"Z Cheng","year":"2011","unstructured":"Cheng Z, Wang J, Su D, Pan H, Huang G, Li X, Li Z, Shen A, Xie X, Wang B, Ma X (2011) Two novel mutations of the IRX4 gene in patients with congenital heart disease. Hum Genet 130(5):657\u2013662","journal-title":"Hum Genet"},{"issue":"23","key":"1430_CR250","doi-asserted-by":"crossref","first-page":"2843","DOI":"10.1161\/01.CIR.0000103684.77636.CD","volume":"108","author":"N Muncke","year":"2003","unstructured":"Muncke N, Jung C, Rudiger H, Ulmer H, Roeth R, Hubert A, Goldmuntz E, Driscoll D, Goodship J, Schon K, Rappold G (2003) Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). Circulation 108(23):2843\u20132850","journal-title":"Circulation"},{"issue":"5","key":"1430_CR251","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1093\/hmg\/ddi055","volume":"14","author":"K Heathcote","year":"2005","unstructured":"Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ, Syrris P (2005) Common arterial trunk associated with a homeodomain mutation of NKX2.6. Hum Mol Genet 14(5):585\u2013593","journal-title":"Hum Mol Genet"},{"issue":"23","key":"1430_CR252","doi-asserted-by":"crossref","first-page":"2979","DOI":"10.1093\/hmg\/11.23.2979","volume":"11","author":"J Kohlhase","year":"2002","unstructured":"Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W (2002) Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet 11(23):2979\u20132987","journal-title":"Hum Mol Genet"},{"issue":"5","key":"1430_CR253","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1086\/343821","volume":"71","author":"R Al-Baradie","year":"2002","unstructured":"Al-Baradie R, Yamada K, St HC, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC (2002) Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family. Am J Hum Genet 71(5):1195\u20131199","journal-title":"Am J Hum Genet"},{"key":"1430_CR254","doi-asserted-by":"crossref","unstructured":"Wang B, Li L, Xie X, Wang J, Yan J, Mu Y, Ma X (2010) Genetic variation of SAL-Like 4 (SALL4) in ventricular septal defect. Int J Cardiol 145(2):224\u2013226","DOI":"10.1016\/j.ijcard.2009.05.067"},{"key":"1430_CR255","doi-asserted-by":"crossref","unstructured":"Pizzuti A, Sarkozy A, Newton AL, Conti E, Flex E, Digilio MC, Amati F, Gianni D, Tandoi C, Marino B, Crossley M, Dallapiccola B (2003) Mutations of ZFPM2\/FOG2 gene in sporadic cases of tetralogy of Fallot. Hum Mutat 22(5):372\u2013377","DOI":"10.1002\/humu.10261"},{"issue":"3","key":"1430_CR256","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/humu.9410","volume":"27","author":"G Nemer","year":"2006","unstructured":"Nemer G, Fadlalah F, Usta J, Nemer M, Dbaibo G, Obeid M, Bitar F (2006) A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. Hum Mutat 27(3):293\u2013294","journal-title":"Hum Mutat"},{"key":"1430_CR257","doi-asserted-by":"crossref","unstructured":"Smith KA, Joziasse IC, Chocron S, van Dinther M, Guryev V, Verhoeven MC, Rehmann H, van der Smagt JJ, Doevendans PA, Cuppen E, Mulder BJ, Ten DP, Bakkers J (2009) Dominant-negative ALK2 allele associates with congenital heart defects. Circulation 119(24):3062\u20133069","DOI":"10.1161\/CIRCULATIONAHA.108.843714"},{"issue":"7","key":"1430_CR258","doi-asserted-by":"crossref","first-page":"1286","DOI":"10.1093\/hmg\/ddq005","volume":"19","author":"SB Bleyl","year":"2010","unstructured":"Bleyl SB, Saijoh Y, Bax NA, de Groot Gittenberger AC, Wisse LJ, Chapman SC, Hunter J, Shiratori H, Hamada H, Yamada S, Shiota K, Klewer SE, Leppert MF, Schoenwolf GC (2010) Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms. Hum Mol Genet 19(7):1286\u20131301","journal-title":"Hum Mol Genet"},{"key":"1430_CR259","doi-asserted-by":"crossref","unstructured":"Aoki Y, Niihori T, Banjo T, Okamoto N, Mizuno S, Kurosawa K, Ogata T, Takada F, Yano M, Ando T, Hoshika T, Barnett C, Ohashi H, Kawame H, Hasegawa T, Okutani T, Nagashima T, Hasegawa S, Funayama R, Nagashima T, Nakayama K, Inoue SI, Watanabe Y, Ogura T, Matsubara Y (2013) Gain-of-Function Mutations in RIT1 Cause Noonan Syndrome, a RAS\/MAPK Pathway Syndrome. Am J Hum Genet 93(1):173\u2013180","DOI":"10.1016\/j.ajhg.2013.05.021"},{"issue":"4","key":"1430_CR260","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1002\/humu.22030","volume":"33","author":"HL Tan","year":"2012","unstructured":"Tan HL, Glen E, Topf A, Hall D, O\u2019Sullivan JJ, Sneddon L, Wren C, Avery P, Lewis RJ, Ten DP, Arthur HM, Goodship JA, Keavney BD (2012) Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat 33(4):720\u2013727","journal-title":"Hum Mutat"},{"issue":"4","key":"1430_CR261","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1086\/374319","volume":"72","author":"SW Robinson","year":"2003","unstructured":"Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL (2003) Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 72(4):1047\u20131052","journal-title":"Am J Hum Genet"},{"key":"1430_CR262","doi-asserted-by":"crossref","unstructured":"Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umana L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig CA, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW (2013) MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development. Hum Mol Genet (Epub ahead of print)","DOI":"10.1093\/hmg\/ddt283"},{"issue":"10","key":"1430_CR263","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","volume":"34","author":"AK Ryan","year":"1997","unstructured":"Ryan AK, Goodship JA, Wilson DI, Philip N, Levy A, Seidel H, Schuffenhauer S, Oechsler H, Belohradsky B, Prieur M, Aurias A, Raymond FL, Clayton-Smith J, Hatchwell E, McKeown C, Beemer FA, Dallapiccola B, Novelli G, Hurst JA, Ignatius J, Green AJ, Winter RM, Brueton L, Brondum-Nielsen K, Scambler PJ (1997) Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 34(10):798\u2013804","journal-title":"J Med Genet"},{"issue":"2","key":"1430_CR264","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1542\/peds.2007-0929","volume":"121","author":"A Battaglia","year":"2008","unstructured":"Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, Donald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC (2008) Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics 121(2):404\u2013410","journal-title":"Pediatrics"},{"issue":"5","key":"1430_CR265","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1002\/ajmg.a.33344","volume":"152A","author":"D Mitter","year":"2010","unstructured":"Mitter D, Chiaie BD, Ludecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D (2010) Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Am J Med Genet A 152A(5):1213\u20131224","journal-title":"Am J Med Genet A"},{"key":"1430_CR266","doi-asserted-by":"crossref","unstructured":"Ballif BC, Hornor SA, Jenkins E, Madan-Khetarpal S, Surti U, Jackson KE, Asamoah A, Brock PL, Gowans GC, Conway RL, Graham JM Jr, Medne L, Zackai EH, Shaikh TH, Geoghegan J, Selzer RR, Eis PS, Bejjani BA, Shaffer LG (2007) Discovery of a previously unrecognized microdeletion syndrome of 16p11.2\u2013p12.2. Nat Genet 39(9):1071\u20131073","DOI":"10.1038\/ng2107"},{"issue":"1","key":"1430_CR267","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1002\/ajmg.a.30090","volume":"129A","author":"PD Grossfeld","year":"2004","unstructured":"Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, Jones C (2004) The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A 129A(1):51\u201361","journal-title":"Am J Med Genet A"},{"issue":"4","key":"1430_CR268","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1002\/ajmg.c.30187","volume":"148C","author":"A Battaglia","year":"2008","unstructured":"Battaglia A, Filippi T, Carey JC (2008) Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet 148C(4):246\u2013251","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"7","key":"1430_CR269","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1097\/01.gim.0000228215.32110.89","volume":"8","author":"S Girirajan","year":"2006","unstructured":"Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH (2006) Genotype-phenotype correlation in Smith\u2013Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. Genet Med 8(7):417\u2013427","journal-title":"Genet Med"},{"issue":"6","key":"1430_CR270","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1097\/01.GIM.0000095625.14160.AB","volume":"5","author":"L Potocki","year":"2003","unstructured":"Potocki L, Shaw CJ, Stankiewicz P, Lupski JR (2003) Variability in clinical phenotype despite common chromosomal deletion in Smith\u2013Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 5(6):430\u2013434","journal-title":"Genet Med"},{"issue":"12","key":"1430_CR271","doi-asserted-by":"crossref","first-page":"1466","DOI":"10.1038\/ng.279","volume":"40","author":"N Brunetti-Pierri","year":"2008","unstructured":"Brunetti-Pierri N, Berg JS, Scaglia F, Belmont J, Bacino CA, Sahoo T, Lalani SR, Graham B, Lee B, Shinawi M, Shen J, Kang SH, Pursley A, Lotze T, Kennedy G, Lansky-Shafer S, Weaver C, Roeder ER, Grebe TA, Arnold GL, Hutchison T, Reimschisel T, Amato S, Geragthy MT, Innis JW, Obersztyn E, Nowakowska B, Rosengren SS, Bader PI, Grange DK, Naqvi S, Garnica AD, Bernes SM, Fong CT, Summers A, Walters WD, Lupski JR, Stankiewicz P, Cheung SW, Patel A (2008) Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet 40(12):1466\u20131471","journal-title":"Nat Genet"},{"issue":"4","key":"1430_CR272","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1086\/374320","volume":"72","author":"C Cardoso","year":"2003","unstructured":"Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH (2003) Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller\u2013Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet 72(4):918\u2013930","journal-title":"Am J Hum Genet"},{"issue":"3","key":"1430_CR273","first-page":"584","volume":"48","author":"WB Dobyns","year":"1991","unstructured":"Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH (1991) Clinical and molecular diagnosis of Miller\u2013Dieker syndrome. Am J Hum Genet 48(3):584\u2013594","journal-title":"Am J Hum Genet"},{"issue":"4","key":"1430_CR274","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1136\/jmg.40.4.285","volume":"40","author":"T Nagai","year":"2003","unstructured":"Nagai T, Matsumoto N, Kurotaki N, Harada N, Niikawa N, Ogata T, Imaizumi K, Kurosawa K, Kondoh T, Ohashi H, Tsukahara M, Makita Y, Sugimoto T, Sonoda T, Yokoyama T, Uetake K, Sakazume S, Fukushima Y, Naritomi K (2003) Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions. J Med Genet 40(4):285\u2013289","journal-title":"J Med Genet"},{"key":"1430_CR275","doi-asserted-by":"crossref","unstructured":"Saugier-Veber P, Bonnet C, Afenjar A, Drouin-Garraud V, Coubes C, Fehrenbach S, Holder-Espinasse M, Roume J, Malan V, Portnoi MF, Jeanne N, Baumann C, Heron D, David A, Gerard M, Bonneau D, Lacombe D, Cormier-Daire V, Billette de Villemeur T, Frebourg T, Burglen L (2007) Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome. Hum Mutat 28(11):1098\u20131107","DOI":"10.1002\/humu.20568"},{"issue":"2","key":"1430_CR276","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1086\/432082","volume":"77","author":"K Tatton-Brown","year":"2005","unstructured":"Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N (2005) Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet 77(2):193\u2013204","journal-title":"Am J Hum Genet"},{"issue":"6","key":"1430_CR277","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1136\/jmg.2003.017202","volume":"41","author":"MA Aldred","year":"2004","unstructured":"Aldred MA, Sanford RO, Thomas NS, Barrow MA, Wilson LC, Brueton LA, Bonaglia MC, Hennekam RC, Eng C, Dennis NR, Trembath RC (2004) Molecular analysis of 20 patients with 2q37.3 monosomy: definition of minimum deletion intervals for key phenotypes. J Med Genet 41(6):433\u2013439","journal-title":"J Med Genet"},{"issue":"2","key":"1430_CR278","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1016\/j.ajhg.2010.07.011","volume":"87","author":"SR Williams","year":"2010","unstructured":"Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH (2010) Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. Am J Hum Genet 87(2):219\u2013228","journal-title":"Am J Hum Genet"},{"issue":"3","key":"1430_CR279","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1038\/ng.93","volume":"40","author":"AJ Sharp","year":"2008","unstructured":"Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De GM, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE (2008) A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet 40(3):322\u2013328","journal-title":"Nat Genet"},{"key":"1430_CR280","doi-asserted-by":"crossref","unstructured":"van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhe C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Perez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB (2009) Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet 46(8):511\u2013523","DOI":"10.1136\/jmg.2008.063412"},{"issue":"3","key":"1430_CR281","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1136\/jmg.2009.070573","volume":"47","author":"B Thienpont","year":"2010","unstructured":"Thienpont B, Bena F, Breckpot J, Philip N, Menten B, Van EH, Scalais E, Salamone JM, Fong CT, Kussmann JL, Grange DK, Gorski JL, Zahir F, Yong SL, Morris MM, Gimelli S, Fryns JP, Mortier G, Friedman JM, Villard L, Bottani A, Vermeesch JR, Cheung SW, Devriendt K (2010) Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. J Med Genet 47(3):155\u2013161","journal-title":"J Med Genet"},{"issue":"3","key":"1430_CR282","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1038\/ejhg.2010.184","volume":"19","author":"SC Nagamani","year":"2011","unstructured":"Nagamani SC, Erez A, Bader P, Lalani SR, Scott DA, Scaglia F, Plon SE, Tsai CH, Reimschisel T, Roeder E, Malphrus AD, Eng PA, Hixson PM, Kang SH, Stankiewicz P, Patel A, Cheung SW (2011) Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet 19(3):280\u2013286","journal-title":"Eur J Hum Genet"},{"issue":"4","key":"1430_CR283","doi-asserted-by":"crossref","first-page":"633","DOI":"10.1086\/512864","volume":"80","author":"L Potocki","year":"2007","unstructured":"Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR (2007) Characterization of Potocki\u2013Lupski syndrome [dup(17)(p11.2p11.2)] and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80(4):633\u2013649","journal-title":"Am J Hum Genet"},{"issue":"4","key":"1430_CR284","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/j.jpeds.2010.09.062","volume":"158","author":"C Soler-Alfonso","year":"2011","unstructured":"Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L (2011) Potocki\u2013Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr 158(4):655\u2013659","journal-title":"J Pediatr"},{"issue":"2\u20133","key":"1430_CR285","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ejmg.2009.02.008","volume":"52","author":"MF Portnoi","year":"2009","unstructured":"Portnoi MF (2009) Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet 52(2\u20133):88\u201393","journal-title":"Eur J Med Genet"},{"issue":"8","key":"1430_CR286","doi-asserted-by":"crossref","first-page":"983","DOI":"10.1093\/hmg\/ddi085","volume":"14","author":"W Bi","year":"2005","unstructured":"Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR (2005) Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith\u2013Magenis syndrome. Hum Mol Genet 14(8):983\u2013995","journal-title":"Hum Mol Genet"},{"issue":"4","key":"1430_CR287","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/1221","volume":"19","author":"S Hirotsune","year":"1998","unstructured":"Hirotsune S, Fleck MW, Gambello MJ, Bix GJ, Chen A, Clark GD, Ledbetter DH, McBain CJ, Wynshaw-Boris A (1998) Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality. Nat Genet 19(4):333\u2013339","journal-title":"Nat Genet"},{"issue":"6439","key":"1430_CR288","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1038\/364717a0","volume":"364","author":"O Reiner","year":"1993","unstructured":"Reiner O, Carrozzo R, Shen Y, Wehnert M, Faustinella F, Dobyns WB, Caskey CT, Ledbetter DH (1993) Isolation of a Miller\u2013Dieker lissencephaly gene containing G protein beta-subunit-like repeats. Nature 364(6439):717\u2013721","journal-title":"Nature"}],"container-title":["Cellular and Molecular Life Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00018-013-1430-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00018-013-1430-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00018-013-1430-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,7,3]],"date-time":"2023-07-03T15:48:52Z","timestamp":1688399332000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00018-013-1430-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,10]]},"references-count":288,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,4]]}},"alternative-id":["1430"],"URL":"https:\/\/doi.org\/10.1007\/s00018-013-1430-1","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.718072699.793532721","asserted-by":"object"}]},"ISSN":["1420-682X","1420-9071"],"issn-type":[{"value":"1420-682X","type":"print"},{"value":"1420-9071","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,10]]}}}